{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T18:03:41Z","timestamp":1780337021473,"version":"3.54.1"},"reference-count":94,"publisher":"Springer Science and Business Media LLC","issue":"8-9","license":[{"start":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T00:00:00Z","timestamp":1553644800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2019,9]]},"DOI":"10.1007\/s00439-019-01995-w","type":"journal-article","created":{"date-parts":[[2019,3,27]],"date-time":"2019-03-27T20:14:17Z","timestamp":1553717657000},"page":"1007-1018","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Mouse models for microphthalmia, anophthalmia and cataracts"],"prefix":"10.1007","volume":"138","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0298-9660","authenticated-orcid":false,"given":"Jochen","family":"Graw","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,3,27]]},"reference":[{"key":"1995_CR1","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1146\/annurev.genom.9.081307.164224","volume":"9","author":"A Acevedo-Arozena","year":"2008","unstructured":"Acevedo-Arozena A, Wells S, Potter P, Kelly M, Cox RD, Brown SD (2008) ENU mutagenesis, a way forward to understand gene function. Annu Rev Genom Hum Genet 9:49\u201369","journal-title":"Annu Rev Genom Hum Genet"},{"key":"1995_CR2","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1387\/ijdb.130193jg","volume":"57","author":"N Ahmad","year":"2013","unstructured":"Ahmad N, Aslam M, Muenster D, Horsch M, Khan MA, Carlsson P, Beckers J, Graw J (2013) Pitx3 directly regulates Foxe3 during early lens development. Int J Dev Biol 57:741\u2013751","journal-title":"Int J Dev Biol"},{"key":"1995_CR3","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1007\/s00335-011-9328-4","volume":"22","author":"B Aigner","year":"2011","unstructured":"Aigner B, Rathkolb B, Klempt M, Wagner S, Michel D, Klaften M, Laufs J, Schneider B, Sedlmeier R, Hrab\u00e9 de Angelis M, Wolf E (2011) Generation of N-ethyl-N-nitrosourea-induced mouse mutants with deviations in hematological parameters. Mamm Genome 22:495\u2013505","journal-title":"Mamm Genome"},{"key":"1995_CR4","doi-asserted-by":"publisher","first-page":"5402","DOI":"10.1093\/hmg\/ddu258","volume":"23","author":"J Amengual","year":"2014","unstructured":"Amengual J, Zhang N, Kemerer M, Maeda T, Palczewski K, Von Lintig J (2014) STRA6 is critical for cellular vitamin A uptake and homeostasis. Hum Mol Genet 23:5402\u20135417","journal-title":"Hum Mol Genet"},{"key":"1995_CR5","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.exer.2016.03.010","volume":"156","author":"D Anand","year":"2017","unstructured":"Anand D, Lachke SA (2017) Systems biology of lens development: a paradigm for disease gene discovery in the eye. Exp Eye Res 156:22\u201333","journal-title":"Exp Eye Res"},{"issue":"39","key":"1995_CR6","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1002\/humu.23395","volume":"3","author":"D Anand","year":"2018","unstructured":"Anand D, Agrawal SA, Slavotinek A, Lachke SA (2018) Mutation update of transcription factor genes FOXE. HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. Hum Mutat 3(39):471\u2013494","journal-title":"Hum Mutat"},{"key":"1995_CR7","doi-asserted-by":"publisher","first-page":"e17671","DOI":"10.1371\/journal.pone.0017671","volume":"6","author":"UP Andley","year":"2011","unstructured":"Andley UP, Hamilton PD, Ravi N, Weihl CC (2011) A knock-in mouse model for the R120G mutation of \u03b1B-crystallin recapitulates human hereditary myopathy and cataracts. PLoS One 6:e17671","journal-title":"PLoS One"},{"key":"1995_CR8","doi-asserted-by":"crossref","unstructured":"Arnheiter H: The discovery of the microphthalmia locus and its gene, Mitf. Pigment Cell Melanoma Res. 2010 (6):729\u2013735","DOI":"10.1111\/j.1755-148X.2010.00759.x"},{"key":"1995_CR9","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1006\/exer.1994.1132","volume":"59","author":"Y Ashida","year":"1994","unstructured":"Ashida Y, Takeda T, Hosokawa M (1994) Protein alterations in age-related cataract associated with a persistent hyaloid vascular system in senescence-accelerated mouse (SAM). Exp Eye Res 59:467\u2013473","journal-title":"Exp Eye Res"},{"key":"1995_CR10","doi-asserted-by":"publisher","first-page":"1471","DOI":"10.1136\/bjo.2007.117929","volume":"91","author":"P Bakrania","year":"2007","unstructured":"Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK (2007) SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 91:1471\u20131476","journal-title":"Br J Ophthalmol"},{"key":"1995_CR11","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.ydbio.2018.05.010","volume":"440","author":"CS Bernstein","year":"2018","unstructured":"Bernstein CS, Anderson MT, Gohel C, Slater K, Gross JM, Agarwala S (2018) The cellular bases of choroid fissure formation and closure. Dev Biol 440:137\u2013151","journal-title":"Dev Biol"},{"issue":"Suppl 1","key":"1995_CR12","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1186\/s12860-016-0116-6","volume":"18","author":"VM Berthoud","year":"2017","unstructured":"Berthoud VM, Ngezahayo A (2017) Focus on lens connexins. BMC Cell Biol 18(Suppl 1):6. https:\/\/doi.org\/10.1186\/s12860-016-0116-6","journal-title":"BMC Cell Biol"},{"key":"1995_CR13","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1016\/j.exer.2014.07.020","volume":"127","author":"SK Biswas","year":"2014","unstructured":"Biswas SK, Brako L, Gu S, Jiang JX, Lo WK (2014) Regional changes of AQP0-dependent square array junction and gap junction associated with cortical cataract formation in the Emory mutant mouse. Exp Eye Res 127:132\u2013142","journal-title":"Exp Eye Res"},{"key":"1995_CR14","first-page":"79","volume":"33","author":"EM Center","year":"1965","unstructured":"Center EM (1965) fh - fetal hematoma. Mouse News Lett 33:79\u201380","journal-title":"Mouse News Lett"},{"key":"1995_CR15","doi-asserted-by":"crossref","first-page":"6742","DOI":"10.1016\/S0021-9258(20)89562-3","volume":"266","author":"C Chambers","year":"1991","unstructured":"Chambers C, Russell P (1991) Deletion mutation in an eye lens beta-crystallin. An animal model for inherited cataracts. J Biol Chem 266:6742\u20136746","journal-title":"J Biol Chem"},{"key":"1995_CR16","first-page":"21","volume":"5","author":"B Chang","year":"1999","unstructured":"Chang B, Hawes NL, Roderick TH, Smith RS, Heckenlively JR, Horwitz J, Davisson MT (1999) Identification of a missense mutation in the \u03b1A-crystallin gene of the lop18 mouse. Mol Vis 5:21","journal-title":"Mol Vis"},{"key":"1995_CR17","first-page":"32","volume":"28","author":"DB Chapman","year":"1963","unstructured":"Chapman DB, Hummel KP (1963) Eye blebs (eb). Mouse News Lett 28:32","journal-title":"Mouse News Lett"},{"key":"1995_CR18","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1093\/genetics\/29.3.264","volume":"29","author":"HB Chase","year":"1944","unstructured":"Chase HB (1944) Studies on an anophthalmic strain of mice. IV. A second major gene for anophthalmia. Genetics 29:264\u2013269","journal-title":"Genetics"},{"key":"1995_CR19","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1007\/s10709-004-1436-6","volume":"122","author":"AT Clark","year":"2004","unstructured":"Clark AT, Goldowitz D, Takahashi JS, Vitaterna MH, Siepka SM, Peters LL, Frankel WN, Carlson GA, Rossant J, Nadeau JH, Justice MJ (2004) Implementing large-scale ENU mutagenesis screens in North America. Genetica 122:51\u201364","journal-title":"Genetica"},{"key":"1995_CR20","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1016\/bs.pmbts.2015.05.001","volume":"134","author":"A Cvekl","year":"2015","unstructured":"Cvekl A, McGreal R, Liu W (2015) Lens Development and crystallin gene expression. Prog Mol Biol Transl Sci 134:129\u2013167","journal-title":"Prog Mol Biol Transl Sci"},{"key":"1995_CR21","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/1471-213X-10-39","volume":"10","author":"P Dames","year":"2010","unstructured":"Dames P, Puff R, Weise M, Parhofer KG, G\u00f6ke B, G\u00f6tz M, Graw J, Favor J, Lechner A (2010) Relative roles of the different Pax6 domains for pancreatic cell development. BMC Dev Biol 10:39. https:\/\/doi.org\/10.1186\/1471-213X-10-39","journal-title":"BMC Dev Biol"},{"key":"1995_CR22","doi-asserted-by":"publisher","first-page":"735","DOI":"10.1136\/bjophthalmol-2016-308952","volume":"101","author":"A Dharmasena","year":"2017","unstructured":"Dharmasena A, Keenan T, Goldacre R, Hall N, Goldacre MJ (2017) Trends over time in the incidence of congenital anophthalmia, microphthalmia and orbital malformation in England: database study. Br J Ophthalmol 101:735\u2013739","journal-title":"Br J Ophthalmol"},{"key":"1995_CR23","first-page":"39","volume":"36","author":"MM Dickie","year":"1967","unstructured":"Dickie MM (1967) Vacuolated lens. Mouse News Lett 36:39\u201340","journal-title":"Mouse News Lett"},{"key":"1995_CR24","first-page":"366","volume":"13","author":"KM DuPrey","year":"2007","unstructured":"DuPrey KM, Robinson KM, Wang Y, Taube JR, Duncan MK (2007) Subfertility in mice harboring a mutation in \u03b2B2-crystallin. Mol Vis 13:366\u2013373","journal-title":"Mol Vis"},{"key":"1995_CR25","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1016\/0027-5107(85)90136-8","volume":"150","author":"UH Ehling","year":"1985","unstructured":"Ehling UH, Charles DJ, Favor J, Graw J, Kratochvilova J, Neuh\u00e4user-Klaus A, Pretsch W (1985) Induction of gene mutations in mice: the multiple endpoint approach. Mutat Res 150:393\u2013401","journal-title":"Mutat Res"},{"key":"1995_CR26","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.exer.2016.06.018","volume":"156","author":"X Fan","year":"2017","unstructured":"Fan X, Monnier VM, Whitson J (2017) Lens glutathione homeostasis: discrepancies and gaps in knowledge standing in the way of novel therapeutic approaches. Exp Eye Res 156:103\u2013111","journal-title":"Exp Eye Res"},{"key":"1995_CR27","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1038\/ng1120","volume":"33","author":"J Fantes","year":"2003","unstructured":"Fantes J, Ragge NK, Lynch SA, McGill NI, Collin JR, Howard-Peebles PN, Hayward C, Vivian AJ, Williamson K, van Heyningen V, FitzPatrick DR: mutations in SOX2 cause anophthalmia. Nat Genet. 2003, 33:461\u2013463","journal-title":"Nat Genet"},{"key":"1995_CR28","doi-asserted-by":"publisher","first-page":"13870","DOI":"10.1073\/pnas.93.24.13870","volume":"93","author":"J Favor","year":"1996","unstructured":"Favor J, Sandulache R, Neuh\u00e4user-Klaus A, Pretsch W, Chatterjee B, Senft E, Wurst W, Blanquet V, Grimes P, Sp\u00f6rle R, Schughart K (1996) The mouse Pax2 1Neu mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc Natl Acad Sci USA 93:13870\u201313875","journal-title":"Proc Natl Acad Sci USA"},{"key":"1995_CR30","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1017\/S0016672300003220","volume":"3","author":"FC Fraser","year":"1962","unstructured":"Fraser FC, Schabtach G (1962) \u2018Shrivelled\u2019, a hereditary degeneration of the lens in the house mouse. Genet Res 3:383\u2013387","journal-title":"Genet Res"},{"key":"1995_CR31","first-page":"422","volume":"15","author":"HN Fukui","year":"1976","unstructured":"Fukui HN, Obazawa H, Kinoshita JH (1976) Lens growth in the Nakano mouse. Invest Ophthalmol 15:422\u2013425","journal-title":"Invest Ophthalmol"},{"key":"1995_CR32","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1167\/iovs.07-0788","volume":"49","author":"K Ganguly","year":"2008","unstructured":"Ganguly K, Favor J, Neuh\u00e4user-Klaus A, Sandulache R, Puk O, Beckers J, Horsch M, Sch\u00e4dler S, Vogt Weisenhorn D, Wurst W, Graw J (2008) Novel allele of Crybb2 in the mouse and its expression in the brain. Invest Ophthalmol Vis Sci 49:1533\u20131541","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1995_CR33","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1007\/s00232-007-9033-0","volume":"218","author":"X Gong","year":"2007","unstructured":"Gong X, Cheng C, Xia CH (2007) Connexins in lens development and cataractogenesis. J Membr Biol 218:9\u201312","journal-title":"J Membr Biol"},{"key":"1995_CR34","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.exer.2008.10.011","volume":"88","author":"J Graw","year":"2009","unstructured":"Graw J (2009) Genetics of crystallins: cataract and beyond. Exp Eye Res 88:173\u2013189","journal-title":"Exp Eye Res"},{"key":"1995_CR35","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1016\/S0070-2153(10)90010-0","volume":"90","author":"J Graw","year":"2010","unstructured":"Graw J (2010) Eye development. Curr Top Dev Biol 90:343\u2013386","journal-title":"Curr Top Dev Biol"},{"key":"1995_CR36","first-page":"1353","volume":"31","author":"J Graw","year":"1990","unstructured":"Graw J, Bors W, Gopinath PM, Merkle S, Michel C, Reitmeir P, Sch\u00e4ffer E, Summer KH, Wulff A (1990a) Characterization of Cat-2 t, a radiation-induced dominant cataract mutation in mice. Invest Ophthalmol Vis Sci 31:1353\u20131361","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1995_CR37","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1016\/0014-4835(90)90031-O","volume":"50","author":"J Graw","year":"1990","unstructured":"Graw J, Werner T, Merkle S, Reitmeir P, Sch\u00e4ffer E, Wulff A (1990b) Histological and biochemical characterization of the murine cataract mutant Nop. Exp Eye Res 50:449\u2013456","journal-title":"Exp Eye Res"},{"key":"1995_CR38","first-page":"2909","volume":"42","author":"J Graw","year":"2001","unstructured":"Graw J, L\u00f6ster J, Soewarto D, Fuchs H, Meyer B, Reis A, Wolf E, Balling R, Hrab\u00e9 de Angelis M (2001) Characterization of a new, dominant V124E mutation in the mouse aA-crystallin-encoding gene. Invest Ophthalmol Vis Sci 42:2909\u20132915","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1995_CR39","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1167\/iovs.03-0811","volume":"45","author":"J Graw","year":"2004","unstructured":"Graw J, Neuh\u00e4user-Klaus A, Klopp N, Selby PB, L\u00f6ster J, Favor J (2004) Genetic and allelic heterogeneity of Cryg mutations in eight distinct forms of dominant cataract in the mouse. Invest Ophthalmol Vis Sci 45:1202\u20131213","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1995_CR40","doi-asserted-by":"publisher","first-page":"1788","DOI":"10.1126\/science.7892602","volume":"267","author":"C Halder","year":"1995","unstructured":"Halder C, Callaerts P, Gehring WJ (1995) Induction of ectopic eyes by targeted expression of the eyeless gene in. Drosoph Sci 267:1788-l 792","journal-title":"Drosoph Sci"},{"key":"1995_CR41","doi-asserted-by":"publisher","first-page":"6131","DOI":"10.1242\/dev.01524","volume":"131","author":"N Haubst","year":"2004","unstructured":"Haubst N, Berger J, Radjendirane V, Graw J, Favor J, Saunders GF, Stoykova A, G\u00f6tz M (2004) Molecular dissection of Pax6 function: the specific roles of the paired domain and homeodomain in brain development. Development 131:6131\u20136140","journal-title":"Development"},{"key":"1995_CR42","doi-asserted-by":"publisher","DOI":"10.1007\/s12035-018-1365-5","author":"T Heermann","year":"2018","unstructured":"Heermann T, Garrett L, Wurst W, Fuchs H, Gailus-Durner V, Hrab\u011b de Angelis M, Graw J, H\u00f6lter SM (2018) Crybb2 mutations consistently affect schizophrenia endophenotypes in mice. Mol Neurobiol. https:\/\/doi.org\/10.1007\/s12035-018-1365-5","journal-title":"Mol Neurobiol"},{"key":"1995_CR43","first-page":"220","volume":"80","author":"P Hertwig","year":"1942","unstructured":"Hertwig P (1942) Neue Mutationen und kopplungsgruppen bei der Hausmaus. Z. induct. Abstammungs- u Vererbungsl 80:220\u2013246","journal-title":"Abstammungs- u Vererbungsl"},{"key":"1995_CR44","doi-asserted-by":"publisher","first-page":"522","DOI":"10.1038\/354522a0","volume":"354","author":"RE Hill","year":"1991","unstructured":"Hill RE, Favor J, Hogan BL, Ton CC, Saunders GF, Hanson IM, Prosser J, Jordan T, Hastie ND, van Heyningen V (1991) Mouse small eye results from mutations in a paired-like homeobox-containing gene. Nature 354:522\u2013525 (erratum in: Nature. 1992, 355:750)","journal-title":"Nature"},{"key":"1995_CR45","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1016\/0092-8674(93)90429-T","volume":"74","author":"CA Hodgkinson","year":"1993","unstructured":"Hodgkinson CA, Moore KJ, Nakayama A, Steingr\u00edmsson E, Copeland NG, Jenkins NA, Arnheiter H (1993) Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein. Cell 74:395\u2013404","journal-title":"Cell"},{"key":"1995_CR46","first-page":"95","volume":"97","author":"BL Hogan","year":"1986","unstructured":"Hogan BL, Horsburgh G, Cohen J, Hetherington CM, Fisher G, Lyon MF (1986) Small eyes (Sey): a homozygous lethal mutation on chromosome 2 which affects the differentiation of both lens and nasal placodes in the mouse. J Embryol Exp Morphol 97:95\u2013110","journal-title":"J Embryol Exp Morphol"},{"key":"1995_CR47","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1016\/S0027-5107(98)00061-X","volume":"400","author":"M Hrab\u00e9 de Angelis","year":"1998","unstructured":"Hrab\u00e9 de Angelis M, Balling R (1998) Large scale ENU screens in the mouse: genetics meets genomics. Mutat Res 400:25\u201332","journal-title":"Mutat Res"},{"key":"1995_CR48","doi-asserted-by":"publisher","first-page":"520","DOI":"10.1038\/ng1549","volume":"37","author":"S Jadeja","year":"2005","unstructured":"Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ (2005) Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet 37:520\u2013525","journal-title":"Nat Genet"},{"key":"1995_CR49","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/0014-4835(80)90124-4","volume":"30","author":"PF Kador","year":"1980","unstructured":"Kador PF, Fukui HN, Fukushi S, Jernigan HM Jr, Kinoshita JH (1980) Philly mouse: a new model of hereditary cataract. Exp Eye Res 30:59\u201368","journal-title":"Exp Eye Res"},{"key":"1995_CR50","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1007\/s00335-017-9698-3","volume":"28","author":"MN Knowlton","year":"2017","unstructured":"Knowlton MN, Smith CL (2017) Naming CRISPR alleles: endonuclease-mediated mutation nomenclature across species. Mamm Genome 28:367\u2013376","journal-title":"Mamm Genome"},{"key":"1995_CR51","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1093\/oxfordjournals.jhered.a109511","volume":"72","author":"J Kratochvilova","year":"1981","unstructured":"Kratochvilova J (1981) Dominant cataract mutations detected in offspring of gamma-irradiated male mice. J Hered 72:302\u2013307","journal-title":"J Hered"},{"key":"1995_CR52","doi-asserted-by":"crossref","unstructured":"Kuck JF, Kuwabara T, Kuck KD (1981\u20131982) The Emory mouse cataract: an animal model for human senile cataract. Curr Eye Res 1:643\u2013649","DOI":"10.3109\/02713688109001868"},{"key":"1995_CR53","doi-asserted-by":"publisher","first-page":"e0125304","DOI":"10.1371\/journal.pone.0125304","volume":"10","author":"S Kunze","year":"2015","unstructured":"Kunze S, Dalke C, Fuchs H, Klaften M, R\u00f6ssler U, Hornhardt S, Gomolka M, Puk O, Sabrautzki S, Kulka U, Hrab\u011b de Angelis M, Graw J (2015) New mutation in the mouse Xpd\/Ercc2 gene leads to recessive cataracts. PLoS One 10:e0125304","journal-title":"PLoS One"},{"key":"1995_CR54","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1093\/nar\/29.2.515","volume":"29","author":"J Lengler","year":"2001","unstructured":"Lengler J, Krausz E, Tomarev S, Prescott A, Quinlan RA, Graw J (2001) Antagonistic action of Six3 and Prox1 at the g-crystallin promoter. Nucleic Acids Res 29:515\u2013526","journal-title":"Nucleic Acids Res"},{"key":"1995_CR55","first-page":"975","volume":"10","author":"CC Little","year":"1923","unstructured":"Little CC, Bagg HJ (1923) The occurrence of two heritable types of abnormality among descendants of X-rayed mice. Am J Roentgenol 10:975\u2013989","journal-title":"Am J Roentgenol"},{"key":"1995_CR56","doi-asserted-by":"publisher","first-page":"1759","DOI":"10.2147\/OPTH.S27189","volume":"5","author":"S Llorente-Gonz\u00e1lez","year":"2011","unstructured":"Llorente-Gonz\u00e1lez S, Peralta-Calvo J, Abelairas-G\u00f3mez JM (2011) Congenital anophthalmia and microphthalmia: epidemiology and orbitofacial rehabilitation. Clin Ophthalmol 5:1759\u20131765","journal-title":"Clin Ophthalmol"},{"key":"1995_CR57","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1016\/S1350-9462(03)00050-8","volume":"22","author":"MF Lou","year":"2003","unstructured":"Lou MF (2003) Redox regulation in the lens. Prog Retin Eye Res 22:657\u2013682","journal-title":"Prog Retin Eye Res"},{"key":"1995_CR58","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1017\/S0016672300020668","volume":"38","author":"MF Lyon","year":"1981","unstructured":"Lyon MF, Jarvis SE, Sayers I, Holmes RS (1981) Lens opacity: a new gene for congenital cataract on chromosome 10 of the mouse. Genet Res 38:337\u2013341","journal-title":"Genet Res"},{"key":"1995_CR59","first-page":"3056","volume":"41","author":"KS Magabo","year":"2000","unstructured":"Magabo KS, Horwitz J, Piatigorsky J, Kantorow M (2000) Expression of bB2-crystallin mRNA and protein in retina, brain, and testis. Invest Ophthalmol Vis Sci 41:3056\u20133060","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1995_CR60","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1038\/42475","volume":"387","author":"PH Mathers","year":"1997","unstructured":"Mathers PH, Grinberg A, Mahon KA, Jamrich M (1997) The Rx homeobox gene is essential for vertebrate eye development. Nature 387:603\u2013607","journal-title":"Nature"},{"key":"1995_CR61","doi-asserted-by":"publisher","first-page":"2088","DOI":"10.1073\/pnas.0705657105","volume":"105","author":"PG Matteson","year":"2008","unstructured":"Matteson PG, Desai J, Korstanje R, Lazar G, Borsuk TE, Rollins J, Kadambi S, Joseph J, Rahman T, Wink J, Benayed R, Paigen B, Millonig JH (2008) The orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development. Proc Natl Acad Sci USA 105:2088\u20132093","journal-title":"Proc Natl Acad Sci USA"},{"key":"1995_CR62","doi-asserted-by":"publisher","first-page":"203","DOI":"10.1038\/ng1142","volume":"34","author":"L McGregor","year":"2003","unstructured":"McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ (2003) Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1\/Fras1 encoding a putative extracellular matrix protein. Nat Genet 34:203\u2013208","journal-title":"Nat Genet"},{"key":"1995_CR63","doi-asserted-by":"publisher","first-page":"2193","DOI":"10.1002\/dvdy.21924","volume":"238","author":"O Medina-Martinez","year":"2009","unstructured":"Medina-Martinez O, Shah R, Jamrich M (2009) Pitx3 controls multiple aspects of lens development. Dev Dyn 238:2193\u20132201","journal-title":"Dev Dyn"},{"key":"1995_CR64","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1038\/s42003-018-0226-0","volume":"1","author":"BA Moore","year":"2018","unstructured":"Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y, International Mouse Phenotyping Consortium, McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Lloyd KCK, Murphy CJ, Moshiri A (2018) Identification of genes required for eye development by high-throughput screening of mouse knockouts. Commun Biol 1:236. https:\/\/doi.org\/10.1038\/s42003-018-0226-0","journal-title":"Commun Biol"},{"key":"1995_CR65","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/j.exer.2013.04.005","volume":"112","author":"M Mori","year":"2013","unstructured":"Mori M, Gotoh S, Taketani S, Hiai H, Higuchi K (2013) Hereditary cataract of the Nakano mouse: Involvement of a hypomorphic mutation in the coproporphyrinogen oxidase gene. Exp Eye Res 112:45\u201350","journal-title":"Exp Eye Res"},{"key":"1995_CR66","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1007\/BF00919288","volume":"231","author":"H Nishimoto","year":"1993","unstructured":"Nishimoto H, Uga S, Miyata M, Ishikawa S, Yamashita K (1993) Morphological study of the cataractous lens of the senescence accelerated mouse. Graefes Arch Clin Exp Ophthalmol 231:722\u2013728","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"1995_CR67","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/S0014-4835(80)80051-0","volume":"31","author":"S Oda","year":"1980","unstructured":"Oda S, Watanabe K, Fujisawa H, Kameyama Y (1980) Impaired development of lens fibers in genetic microphthalmia, eye lens obsolescence, Elo, of the mouse. Exp Eye Res 31:673\u2013681","journal-title":"Exp Eye Res"},{"key":"1995_CR68","first-page":"26","volume":"42","author":"RJS Phillips","year":"1970","unstructured":"Phillips RJS (1970) Blebbed, bl. Mouse News Lett 42:26","journal-title":"Mouse News Lett"},{"key":"1995_CR69","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1007\/s00335-006-0019-5","volume":"17","author":"O Puk","year":"2006","unstructured":"Puk O, Dalke C, Favor J, Hrab\u00e9 de Angelis M, Graw J (2006) Variations of eye size parameters among different strains of mice. Mamm Genome 17:851\u2013857","journal-title":"Mamm Genome"},{"key":"1995_CR70","doi-asserted-by":"publisher","first-page":"2571","DOI":"10.1167\/iovs.10-6443","volume":"52","author":"O Puk","year":"2011","unstructured":"Puk O, Ahmad N, Wagner S, Hrab\u00e9 de Angelis M, Graw J (2011a) First mutation in the \u03b2A2-crystallin encoding gene is associated with small lenses and age-related cataracts. Invest Ophthalmol Vis Sci 52:2571\u20132576","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1995_CR71","first-page":"1164","volume":"17","author":"O Puk","year":"2011","unstructured":"Puk O, Ahmad N, Wagner S, Hrab\u00e9 de Angelis M, Graw J (2011b) Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse. Mol Vis 17:1164\u20131171","journal-title":"Mol Vis"},{"key":"1995_CR72","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajmg.a.30642","volume":"135","author":"NK Ragge","year":"2005","unstructured":"Ragge NK, Lorenz B, Schneider A, Bushby K, de Sanctis L, de Sanctis U, Salt A, Collin JR, Vivian AJ, Free SL, Thompson P, Williamson KA, Sisodiya SM, van Heyningen V, Fitzpatrick DR (2005) SOX2 anophthalmia syndrome. Am J Med Genet A 135:1\u20137","journal-title":"Am J Med Genet A"},{"key":"1995_CR73","doi-asserted-by":"publisher","first-page":"84","DOI":"10.1111\/j.1399-0004.1990.tb03484.x","volume":"37","author":"M Ramsing","year":"1990","unstructured":"Ramsing M, Rehder H, Holzgreve W, Meinecke P, Lenz W (1990) Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn. Clin Genet 37:84\u201396","journal-title":"Clin Genet"},{"key":"1995_CR200","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1002\/bdrc.21097","volume":"105","author":"LM Reis","year":"2015","unstructured":"Reis LM, Semina EV (2015) Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma. Birth Defects Res C Embryo Today 105:96\u2013113","journal-title":"Birth Defects Res C Embryo Today"},{"key":"1995_CR74","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1006\/geno.2000.6464","volume":"72","author":"DK Rieger","year":"2001","unstructured":"Rieger DK, Reichenberger E, McLean W, Sidow A, Olsen BR (2001) A double-deletion mutation in the Pitx3 gene causes arrested lens development in aphakia mice. Genomics 72:61\u201372","journal-title":"Genomics"},{"key":"1995_CR75","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1017\/S0016672300010387","volume":"9","author":"RC Roberts","year":"1967","unstructured":"Roberts RC (1967) Small eyes\u2014a new dominant eye mutant in the mouse. Genet Res Camb 9:121\u2013122","journal-title":"Genet Res Camb"},{"key":"1995_CR76","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1007\/s00335-009-9235-0","volume":"21","author":"M Rosemann","year":"2010","unstructured":"Rosemann M, Ivashkevich A, Favor J, Dalke C, H\u00f6lter SM, Becker L, R\u00e1cz I, Bolle I, Klempt M, Rathkolb B, Kalaydjiev S, Adler T, Aguilar A, Hans W, Horsch M, Rozman J, Calzada-Wack J, Kunder S, Naton B, Gailus-Durner V, Fuchs H, Schulz H, Beckers J, Busch DH, Burbach JP, Smidt MP, Quintanilla-Martinez L, Esposito I, Klopstock T, Klingenspor M, Ollert M, Wolf E, Wurst W, Zimmer A, de Angelis MH, Atkinson M, Heinzmann U, Graw J (2010) Microphthalmia, parkinsonism, and enhanced nociception in Pitx3 416insG mice. Mamm Genome 21:13\u201327","journal-title":"Mamm Genome"},{"key":"1995_CR77","doi-asserted-by":"publisher","first-page":"1575","DOI":"10.1093\/hmg\/9.11.1575","volume":"9","author":"EV Semina","year":"2000","unstructured":"Semina EV, Murray JC, Reiter R, Hrstka RF, Graw J (2000) Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet 9:1575\u20131585","journal-title":"Hum Mol Genet"},{"key":"1995_CR78","doi-asserted-by":"publisher","first-page":"1160","DOI":"10.1038\/eye.2016.156","volume":"30","author":"S Sheeladevi","year":"2016","unstructured":"Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM (2016) Global prevalence of childhood cataract: a systematic review. Eye (Lond) 30:1160\u20131169","journal-title":"Eye (Lond)"},{"key":"1995_CR79","first-page":"1870","volume":"43","author":"NL Sheets","year":"2002","unstructured":"Sheets NL, Chauhan BK, Wawrousek E, Hejtmancik JF, Cvekl A, Kantorow M (2002) Cataract- and lens-specific upregulation of ARK receptor tyrosine kinase in Emory mouse cataract. Invest Ophthalmol Vis Sci 43:1870\u20131875","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"1995_CR80","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1038\/ng0296-212","volume":"12","author":"A Shiels","year":"1996","unstructured":"Shiels A, Bassnett S (1996) Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet 12:212\u2013215","journal-title":"Nat Genet"},{"key":"1995_CR81","doi-asserted-by":"publisher","first-page":"13560","DOI":"10.1073\/pnas.0402760101","volume":"101","author":"I Smyth","year":"2004","unstructured":"Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ (2004) The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis. Proc Natl Acad Sci USA 101:13560\u201313565","journal-title":"Proc Natl Acad Sci USA"},{"key":"1995_CR82","doi-asserted-by":"publisher","first-page":"853","DOI":"10.1136\/archdischild-2016-310532","volume":"102","author":"AL Solebo","year":"2017","unstructured":"Solebo AL, Teoh L, Rahi J (2017) Epidemiology of blindness in children. Arch Dis Child 102:853\u2013857","journal-title":"Arch Dis Child"},{"key":"1995_CR83","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1146\/annurev.genet.38.072902.092717","volume":"38","author":"E Steingr\u00edmsson","year":"2004","unstructured":"Steingr\u00edmsson E, Copeland NG, Jenkins NA (2004) Melanocytes and the microphthalmia transcription factor network. Annu Rev Genet 38:365\u2013411","journal-title":"Annu Rev Genet"},{"key":"1995_CR84","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1007\/s00335-013-9478-7","volume":"24","author":"M Sun","year":"2013","unstructured":"Sun M, H\u00f6lter SM, Stepan J, Garrett L, Genius J, Kremmer E, Hrab\u011b de Angelis M, Wurst W, Lie DC, Bally-Cuif L, Eder M, Rujescu D, Graw J (2013) Crybb2 coding for \u03b2B2-crystallin affects sensorimotor gating and hippocampal function. Mamm Genome 24:333\u2013348","journal-title":"Mamm Genome"},{"key":"1995_CR85","doi-asserted-by":"publisher","first-page":"123","DOI":"10.1016\/j.bbrc.2018.05.195","volume":"503","author":"M Sun","year":"2018","unstructured":"Sun M, Ahmad N, Zhang R, Graw J (2018) Crybb2 associates with Tmsb4X and is crucial for dendrite morphogenesis. Biochem Biophys Res Commun 503:123\u2013130","journal-title":"Biochem Biophys Res Commun"},{"key":"1995_CR86","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1038\/ng1292","volume":"36","author":"K Takamiya","year":"2004","unstructured":"Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, Scambler PJ, Huganir RL, Adams RH (2004) A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1. Nat Genet 36:172\u2013177","journal-title":"Nat Genet"},{"key":"1995_CR87","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1016\/0047-6374(81)90084-1","volume":"17","author":"T Takeda","year":"1981","unstructured":"Takeda T, Hosokawa M, Takeshita S, Irino M, Higuchi K, Matsushita T, Tomita Y, Yasuhira K, Hamamoto H, Shimizu K, Ishii M, Yamamuro T (1981) A new murine model of accelerated senescence. Mech Ageing Dev 17:183\u2013194","journal-title":"Mech Ageing Dev"},{"key":"1995_CR88","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1101\/gad.1407906","volume":"20","author":"OV Taranova","year":"2006","unstructured":"Taranova OV, Magness ST, Fagan BM, Wu Y, Surzenko N, Hutton SR, Pevny LH (2006) SOX2 is a dose-dependent regulator of retinal neural progenitor competence. Genes Dev 20:1187\u20131202","journal-title":"Genes Dev"},{"key":"1995_CR89","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1002\/gene.10003","volume":"31","author":"P Tucker","year":"2001","unstructured":"Tucker P, Laemle L, Munson A, Kanekar S, Oliver ER, Brown N, Schlecht H, Vetter M, Glaser T (2001) The eyeless mouse mutation (ey1) removes an alternative start codon from the Rx\/rax homeobox gene. Genesis 31:43\u201353","journal-title":"Genesis"},{"key":"1995_CR90","first-page":"16","volume":"55","author":"DS Varnum","year":"1976","unstructured":"Varnum DS, Fox S (1976) heb\u2014head bleb. Mouse News Lett 55:16","journal-title":"Mouse News Lett"},{"key":"1995_CR91","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1093\/oxfordjournals.jhered.a107667","volume":"59","author":"DS Varnum","year":"1968","unstructured":"Varnum DS, Stevens LC (1968) Aphakia, a new mutation in the mouse. J Hered 59:147\u2013150","journal-title":"J Hered"},{"key":"1995_CR92","doi-asserted-by":"publisher","first-page":"e111432","DOI":"10.1371\/journal.pone.0111432","volume":"9","author":"K Wada","year":"2014","unstructured":"Wada K, Matsushima Y, Tada T, Hasegawa S, Obara Y, Yoshizawa Y, Takahashi G, Hiai H, Shimanuki M, Suzuki S, Saitou J, Yamamoto N, Ichikawa M, Watanabe K, Kikkawa Y (2014) Expression of truncated PITX3 in the developing lens leads to microphthalmia and aphakia in mice. PLoS One 9:e111432","journal-title":"PLoS One"},{"key":"1995_CR93","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1016\/j.ejmg.2014.05.002","volume":"57","author":"KA Williamson","year":"2014","unstructured":"Williamson KA, FitzPatrick DR (2014) The genetic architecture of microphthalmia, anophthalmia and coloboma. Eur J Med Genet 57:369\u2013380","journal-title":"Eur J Med Genet"},{"key":"1995_CR94","doi-asserted-by":"publisher","first-page":"5597","DOI":"10.1093\/hmg\/ddu274","volume":"23","author":"X Yan","year":"2014","unstructured":"Yan X, Sabrautzki S, Horsch M, Fuchs H, Gailus-Durner V, Beckers J, Hrab\u011b de Angelis M, Graw J (2014) Peroxidasin is essential for eye development in the mouse. Hum Mol Genet 23:5597\u20135614","journal-title":"Hum Mol Genet"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-019-01995-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-019-01995-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-019-01995-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,14]],"date-time":"2022-09-14T13:39:27Z","timestamp":1663162767000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-019-01995-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,27]]},"references-count":94,"journal-issue":{"issue":"8-9","published-print":{"date-parts":[[2019,9]]}},"alternative-id":["1995"],"URL":"https:\/\/doi.org\/10.1007\/s00439-019-01995-w","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,27]]},"assertion":[{"value":"16 November 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 March 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 March 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The author states that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}