{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T09:33:48Z","timestamp":1772703228257,"version":"3.50.1"},"reference-count":61,"publisher":"Maximum Academic Press","issue":"5","license":[{"start":{"date-parts":[[2005,12,6]],"date-time":"2005-12-06T00:00:00Z","timestamp":1133827200000},"content-version":"unspecified","delay-in-days":96,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["journals.cambridge.org"],"crossmark-restriction":true},"short-container-title":["Vis Neurosci"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:p>The Jackson Laboratory, having the world's largest collection of mouse mutant stocks and genetically diverse inbred strains, is an ideal place to discover genetically determined eye variations and disorders. In this paper, we list and describe mouse models for ocular research available from Mouse Eye Mutant Resource at The Jackson Laboratory. While screening mouse strains and stocks at The Jackson Laboratory (TJL) for genetic mouse models of human ocular disorders, we have identified numerous spontaneous or naturally occurring mutants. We characterized these mutants using serial indirect ophthalmoscopy, fundus photography, electroretinography (ERG) and histology, and performed genetic analysis including linkage studies and gene identification. Utilizing ophthalmoscopy, electroretinography, and histology, to date we have discovered 109 new disorders affecting all aspects of the eye including the lid, cornea, iris, lens, and retina, resulting in corneal disorders, glaucoma, cataracts, and retinal degenerations. The number of known serious or disabling eye diseases in humans is large and affects millions of people each year. Yet research on these diseases frequently is limited by the obvious restrictions on studying pathophysiologic processes in the human eye. Likewise, many human ocular diseases are genetic in origin, but appropriate families often are not readily available for genetic studies. Mouse models of inherited ocular disease provide powerful tools for rapid genetic analysis, characterization, and gene identification. Because of the great similarity among mammalian genomes, these findings in mice have direct relevance to the homologous human conditions.<\/jats:p>","DOI":"10.1017\/s0952523805225075","type":"journal-article","created":{"date-parts":[[2008,4,21]],"date-time":"2008-04-21T18:13:27Z","timestamp":1208801607000},"page":"587-593","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":66,"title":["Mouse models of ocular diseases"],"prefix":"10.48130","volume":"22","author":[{"given":"B.","family":"CHANG","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.L.","family":"HAWES","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.E.","family":"HURD","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"WANG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"HOWELL","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.T.","family":"DAVISSON","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.H.","family":"RODERICK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"NUSINOWITZ","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.R.","family":"HECKENLIVELY","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27968","published-online":{"date-parts":[[2005,12,6]]},"reference":[{"key":"S0952523805225075_ref040","unstructured":"Ikeda, S. , Hawes, N.L. , Chang, B. , Avery, C.S. , Smith, R.S. , & Nishina, P.M. (1999).Severe ocular abnormalities in C57BL\/6 but not in 129\/Svp53-deficient mice.Investigative Ophthalmology and Visual Science 40,1874\u20131878."},{"key":"S0952523805225075_ref036","unstructured":"Hawes, N.L. , Hurd, R.E. , Wang, J. , Davisson, M.T. , Nusinowitz, S. , Heckenlively, J.R. , & Chang, B. (2005).A new mouse model of retinal degeneration (rd15) withretinal outer plexiform dystrophy.Investigative Ophthalmology and Visual Science 46, ARVO E-Abstract 3175."},{"key":"S0952523805225075_ref006","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<289::AID-AJMG8>3.0.CO;2-I"},{"key":"S0952523805225075_ref058","unstructured":"Talamas, E.J. , Jackson, L. , Chang, B. , & Sidjanin, D. (2005).Mapping of the mouse lens opacity locus 11 (lop11).Investigative Ophthalmology and Visual Science 46, ARVO E-Abstract 823."},{"key":"S0952523805225075_ref015","doi-asserted-by":"crossref","unstructured":"Chang, B. , Smith, R.S. , Hawes, N.L. , Anderson, M.G. , Zabaleta, A. , Savinova, O. , Roderick, T.H. , Heckenlively, J.R. , Davisson, M.T. , & John, S.W. (1999b).Interacting loci cause severe iris atrophy and glaucoma inDBA\/2J mice.Nature Genetics 21,405\u2013409.","DOI":"10.1038\/7741"},{"key":"S0952523805225075_ref043","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.16.1879"},{"key":"S0952523805225075_ref059","unstructured":"Varnum, D. (1981).\u201cNuclear cataract (nuc)\u201d.Mouse News Letters 64,59."},{"key":"S0952523805225075_ref023","unstructured":"Chang, B. , Hawes, N.L. , Hurd, R.E. , Miller, R.L. , Davisson, M.T. , Nusinowitz, S. , & Heckenlively, J.R. (2003).A gene responsible for light-induced visual impairment(lvi) in mice.Investigative Ophthalmology and Visual Science 44,ARVO E-Abstract 4532."},{"key":"S0952523805225075_ref011","unstructured":"Chang, B. , Hageman, G.S. , Heckenlively, J.R. , Hawes, N.L. , Peng, C. , Roderick, T.H. , & Davisson, M.T. (1996a).A mouse model for retinitis punctatus albescens: a new pathologicfinding for retinal white dots.Investigative Ophthalmology and Visual Science 37(Suppl.),S505(Abstract)."},{"key":"S0952523805225075_ref009","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1993.1138"},{"key":"S0952523805225075_ref031","unstructured":"Hawes, N.L. , Smith, R.S. , Chang, B. , Davisson, M. , Heckenlively, J.R. , & John, S.W. (1999).Mouse fundus photography and angiography: A catalogue of normal andmutant phenotypes.Molecular Vision 5,22."},{"key":"S0952523805225075_ref050","unstructured":"Robinson, G.C & Jan, J.F. (1993).Acquired ocular visual impairment in children.AJDC 147,325\u2013328."},{"key":"S0952523805225075_ref012","doi-asserted-by":"crossref","unstructured":"Chang, B. , Hawes, N.L. , Smith, R.S. , Heckenlively, J.R. , Davisson, M.T. , & Roderick, T.H. (1996b).Chromosomal localization of a new mouse lens opacity gene(lop18).Genomics 36,171\u2013173.","DOI":"10.1006\/geno.1996.0439"},{"key":"S0952523805225075_ref049","doi-asserted-by":"crossref","unstructured":"Pieke-Dahl, S. , Ohlemiller, K.K. , McGee, J. , Walsh, E.J. , & Kimberling, W.J. (1997).Hearing loss in the RBF\/DnJ mouse, a proposed animal model ofUsher syndrome type IIa.Hearing Research 112(1\u20132),1\u201312.","DOI":"10.1016\/S0378-5955(97)00087-7"},{"key":"S0952523805225075_ref048","unstructured":"Pang, J. , Chang, B. , Heckenlively, J. , Hawes, N.L. , Nusinowitz, S. , Noorwez, S.M. , McDowell, J.H. , Timmers, A.M. , & Hauswirth, W.W. (2004).Gene therapy restores vision in a natural model of RPE65 Lebercongenital amaurosis: The rd12 mouse.Investigative Ophthalmology and Visual Science 45, ARVO E-Abstract 3486."},{"key":"S0952523805225075_ref010","unstructured":"Chang, B. , Bronson, R.T. , Hawes, N.L. , Roderick, T.H. , Peng, C. , Hageman, G.S. , & Heckenlively, J.R. (1994).A retinal degeneration in motor neuron degeneration: A mouse modelof ceroid lipofuscinosis.Investigative Ophthalmology and Visual Science 35,1071\u20131076."},{"key":"S0952523805225075_ref044","doi-asserted-by":"crossref","unstructured":"McKusick, V.A. (1998).Mendelian Inheritance in Man.Baltimore, Maryland:The Johns Hopkins University Press.","DOI":"10.56021\/9780801857423"},{"key":"S0952523805225075_ref025","unstructured":"Chang, B. , Hawes, N.L. , Hurd, R.E. , Wang, J. , Davisson, M.T. , Nusinowitz, S. , & Heckenlively, J.R. (2005).A new mouse model of retinal degeneration (rd13).Investigative Ophthalmology and Visual Science 46,ARVO E-Abstract 3173."},{"key":"S0952523805225075_ref029","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1619"},{"key":"S0952523805225075_ref057","doi-asserted-by":"crossref","unstructured":"Taylor, B.A. , Navin, A. , & Phillips S.J .(1996).PCR-amplification of simple sequence repeat variants from pooled DNAsamples for rapidly mapping new mutations of the mouse.Genomics 21,626\u2013632.","DOI":"10.1006\/geno.1994.1323"},{"key":"S0952523805225075_ref008","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-376"},{"key":"S0952523805225075_ref018","doi-asserted-by":"crossref","unstructured":"Chang, B. , Hawes, N.L. , Hurd, R.E. , Davisson, M.T. , Nusinowitz, S. , & Heckenlively, J.R. (2001a).A new mouse model of cone photoreceptor function loss(cpfl1).Investigative Ophthalmology and Visual Science 42(Suppl.),S527(Abstract).","DOI":"10.1016\/S0042-6989(01)00146-8"},{"key":"S0952523805225075_ref039","unstructured":"Heckenlively, J.R. , Dacey, M.S. , Hawes, N.L. , Hurd, R. , Alexander, J.J. , Hauswirth, W.W. , Nusinowitz, S. , Hitchcock, P.F. , & Chang, B. (2005).Cone photoreceptor function loss-3 (Cpfl3), a new mouse model ofachromatopsia due to missense mutation in GNAT2.Investigative Ophthalmology and Visual Science 46, ARVO E-Abstract 3190."},{"key":"S0952523805225075_ref022","doi-asserted-by":"crossref","unstructured":"Chang, B. , Hawes, N.L. , Hurd, R.E. , Davisson, M.T. , Nusinowitz, S. , & Heckenlively, J.R. (2002c).Retinal degeneration mutants in the mouse.Vision Research 42(4),517\u2013525.","DOI":"10.1016\/S0042-6989(01)00146-8"},{"key":"S0952523805225075_ref045","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg232"},{"key":"S0952523805225075_ref014","unstructured":"Chang, B. , Hawes, N.L. , Nishina, P.M. , Smith, R.S. , Davisson, M.T. , & Heckenlively, J.R. (1999a).Two new mouse models of retinal degeneration (rd8 andRd9).Investigative Ophthalmology and Visual Science 40(Suppl.),S976(Abstract)."},{"key":"S0952523805225075_ref001","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.10.5551"},{"key":"S0952523805225075_ref016","unstructured":"Chang, B. , Hawes, N.L. , Roderick, T.H. , Smith, R.S. , Heckenlively, J.R. , Horwitz, J. , & Davisson, M.T. (1999c).Identification of a missense mutation in the alphaA-crystallin geneof the lop18 mouse.Molecular Vision 5,21."},{"key":"S0952523805225075_ref034","unstructured":"Hawes, N.L. , Hurd, R.E. , Haider, N. , Davisson, M.T. , Nusinowitz, S. , Heckenlively, J.R. , & Chang, B. (2003).A new mouse model of cone photoreceptor function loss(Cpfl2).Investigative Ophthalmology and Visual Science 44,ARVO E-Abstract 4532."},{"key":"S0952523805225075_ref028","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.9.1612"},{"key":"S0952523805225075_ref042","unstructured":"John, S.W. , Smith, R.S. , Savinova, O.V. , Hawes, N.L. , Chang, B. , Turnbull, D. , Davisson, M. , Roderick, T.H. , & Heckenlively, J.R. (1998).Essential iris atrophy, pigment dispersion, and glaucoma inDBA\/2J mice.Investigative Ophthalmology and Visual Science 39,951\u2013962."},{"key":"S0952523805225075_ref017","unstructured":"Chang, B. , Hawes, N.L. , Hurd, R.E. , Davisson, M.T. , Nusinowitz, S. , & Heckenlively, J.R. (2000).A new mouse retinal degeneration (rd10) caused by amissense mutation in exon 13 of the beta-subunit of rod phosphodiesterasegene.Investigative Ophthalmology and Visual Science 41(Suppl.),S533(Abstract)."},{"key":"S0952523805225075_ref019","doi-asserted-by":"crossref","unstructured":"Chang, B. , Smith. R.S., Peters. M. , Savinova, O.V. , Hawes, N.L. , Zabaleta, A. , Nusinowitz, S. , Martin, J.E. , Davisson, M.L. , Cepko, C.L. , Hogan, B.L. , & John, S.W. (2001b).Haploinsufficient Bmp4 ocular phenotypes include anterior segmentdysgenesis with elevated intraocular pressure.BMC Genetics 2(1),18.","DOI":"10.1186\/1471-2156-2-18"},{"key":"S0952523805225075_ref007","doi-asserted-by":"crossref","unstructured":"Buchner, D.A. , Seburn, K.L. , Frankel, W.N. , & Meisler, M.H. (2004).Three ENU-induced neurological mutations in the pore loop of sodiumchannel Scn8a (Na(v)1.6) and a genetically linked retinal mutation,rd13.Mammalian Genome 15(5),344\u201351.","DOI":"10.1007\/s00335-004-2332-1"},{"key":"S0952523805225075_ref033","unstructured":"Hawes, N.L. , Chang, B. , Hurd, R.E. , Nusinowitz, S. , Heckenlively, J.R. , & Davisson, M.T. (2002).A new mouse model of retinal degeneration (rd11).Investigative Ophthalmology and Visual Science 43,ARVO E-Abstract 3669."},{"key":"S0952523805225075_ref026","doi-asserted-by":"publisher","DOI":"10.1007\/s003359901067"},{"key":"S0952523805225075_ref030","unstructured":"Hawes, N.L. & Roderick, T.H. (1990).Linkage of ocular retardation (or).Mouse Genome 87,93."},{"key":"S0952523805225075_ref035","unstructured":"Hawes, N.L. , Hurd, R.E. , Wang, J. , Davisson, M.T. , Nusinowitz, S. , Heckenlively, J.R. , & Chang, B. (2004).A new mouse model of cone photoreceptor function loss(Cpfl4).Investigative Ophthalmology and Visual Science 45h,ARVO E-Abstract 3590."},{"key":"S0952523805225075_ref020","doi-asserted-by":"crossref","unstructured":"Chang, B. , Wang, X. , Hawes, N.L. , Ojakian, R. , Davisson, M.T. , Lo, W.K. , & Gong, X. (2002a).A Gja8 (Cx50) point mutation causes an alteration of alpha 3connexin (Cx46) in semi-dominant cataracts of Lop10 mice.Human Molecular Genetics 11,507\u2013513.","DOI":"10.1093\/hmg\/11.5.507"},{"key":"S0952523805225075_ref038","doi-asserted-by":"publisher","DOI":"10.1097\/00006982-200308000-00012"},{"key":"S0952523805225075_ref032","unstructured":"Hawes, N.L. , Chang, B. , Hageman, G.S. , Nusinowitz, S. , Nishina, P.M. , Schneider, B.S. , Smith, R.S. , Roderick, T.H. , Davisson, M.T. , & Heckenlively, J.R. (2000).Retinal degeneration 6 (rd 6): A new mouse model for humanretinitis punctata albescens.Investigative Ophthalmology and Visual Science 41,3149\u20133157."},{"key":"S0952523805225075_ref041","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg112"},{"key":"S0952523805225075_ref053","unstructured":"Runge, P.E. , Hawes, N.L. , Heckenlively, J.R. , Langley, S.H. , & Roderick, T.H. (1992).Autosomal dominant mouse cataract (Lop-10), consistent differencesof expression in heterozygotes.Investigative Ophthalmology and Visual Science 33,3202\u20133208."},{"key":"S0952523805225075_ref051","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1987.04460120087041"},{"key":"S0952523805225075_ref056","doi-asserted-by":"crossref","unstructured":"Smith, R.S. , Hawes, N.L. , Chang, B. , Roderick, T.H. , Akeson, E.C. , Heckenlively, J.R. , Gong, X. , Wang, X. , & Davisson, M.T. (2000b).Lop12, a mutation in mouse Crygd causing lens opacity similar tohuman Coppock cataract.Genomics 63,314\u2013320.","DOI":"10.1006\/geno.1999.6054"},{"key":"S0952523805225075_ref005","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330408"},{"key":"S0952523805225075_ref060","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-4328(01)00413-2"},{"key":"S0952523805225075_ref013","unstructured":"Chang, B. , Heckenlively, J.R. , Hawes, N.L. , & Davisson, M.T. (1998).A new mouse model of retinal dysplasia and degeneration(rd7).Investigative Ophthalmology and Visual Science 39(Suppl.),S880(Abstract)."},{"key":"S0952523805225075_ref002","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-2-1"},{"key":"S0952523805225075_ref024","unstructured":"Chang, B. , Hawes, N.L. , Hurd, R.E. , Wang, J. , Davisson, M.T. , Nusinowitz, S. , & Heckenlively, J.R. (2004).Selective loss of ERG b-wave caused by an autosomalrecessive mutation in mice.Investigative Ophthalmology and Visual Science 45,ARVO E-Abstract 1019."},{"key":"S0952523805225075_ref046","doi-asserted-by":"publisher","DOI":"10.1038\/380534a0"},{"key":"S0952523805225075_ref004","unstructured":"Boatright, J.H. , Rengarajan, K. , Pardue, M.T. , German Moring, A.J. , Nickerson, J.M. , Hawes, N.L. , & Chang, B. (2003).Developmental analysis of the rd10 mouse.Investigative Ophthalmology and Visual Science 44,ARVO E-Abstract 4536."},{"key":"S0952523805225075_ref027","unstructured":"Danciger, M. , Hendrickson, J. , Rao, N. , Chang, B. , Udar, N.S. , Small, K.W. , Davisson, M.T. , & Farber, D.B. (2000).Positional cloning studies of the Rd4 retinaldegeneration.Investigative Ophthalmology and Visual Science 41(Suppl.),S203(ARVO-Abstract)."},{"key":"S0952523805225075_ref047","unstructured":"Nusinowitz, S. , Chang, B. , Reichenbach, A. , Hawes, N.L. , Hurd, R.E. , Donahue, L. , Bronson, R. , Wolburg, H. , Davisson, M.T. , & Heckenlively, J.R. (2001).A mouse model of retinoschisis caused by an autosomal recessivemutation.Investigative Ophthalmology and Visual Science 42(4),S767."},{"key":"S0952523805225075_ref054","unstructured":"Smith, R.S. , Hawes, N.L. , Kuhlmann, S.D. , Heckenlively, J.R. , Chang, B. , Roderick, T.H. , & Sundberg, J.P. (1996).Corn1: A mouse model for corneal surface disease andneovascularization.Investigative Ophthalmology and Visual Science 37,397\u2013404."},{"key":"S0952523805225075_ref055","doi-asserted-by":"crossref","unstructured":"Smith, R.S. , John, S.W. , Zabeleta, A. , Davisson, M.T. , Hawes, N.L. , & Chang, B. (2000a).The bst locus on mouse chromosome 16 is associated with age-relatedsubretinal neovascularization.Proceedings of the National Academy of Sciences of the U.S.A. 97(5),2191\u20132195.","DOI":"10.1073\/pnas.040531597"},{"key":"S0952523805225075_ref037","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.24.11100"},{"key":"S0952523805225075_ref021","unstructured":"Chang, B. , Hawes, N.L. , Hurd, R.E. , Davisson, M.T. , Nusinowitz, S. , & Heckenlively, J.R. (2002b).A point mutation in the Rpe65 gene causes retinaldegeneration (rd12) in mice.Investigative Ophthalmology and Visual Science 43,ARVO E-Abstract 3670."},{"key":"S0952523805225075_ref003","doi-asserted-by":"publisher","DOI":"10.1038\/ng794"},{"key":"S0952523805225075_ref052","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4717"},{"key":"S0952523805225075_ref061","unstructured":"Zhang, J. , Hawes, N.L. , Wang, J. , Harris, B.S. , Hurd, R.E. , Davisson, M.T. , Heckenlively, J.R. , & Chang, B. (2005).A new mouse model of retinal degeneration (rd14).Investigative Ophthalmology and Visual Science 46, ARVO E-Abstract 3170."}],"container-title":["Visual Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0952523805225075","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,2]],"date-time":"2025-01-02T20:03:19Z","timestamp":1735848199000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0952523805225075\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9]]},"references-count":61,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["S0952523805225075"],"URL":"https:\/\/doi.org\/10.1017\/s0952523805225075","relation":{},"ISSN":["0952-5238","1469-8714"],"issn-type":[{"value":"0952-5238","type":"print"},{"value":"1469-8714","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9]]},"assertion":[{"value":"2005 Cambridge University Press","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}