{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T05:43:06Z","timestamp":1790746986908,"version":"4.1.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Genet"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>The long bone abnormality (<jats:italic>lbab<\/jats:italic>) mouse is a new autosomal recessive mutant characterized by overall smaller body size with proportionate dwarfing of all organs and shorter long bones. Previous linkage analysis has located the <jats:italic>lbab<\/jats:italic> mutation on chromosome 1 between the markers <jats:italic>D1Mit9<\/jats:italic> and <jats:italic>D1Mit488<\/jats:italic>.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>A genome-based positional approach was used to identify a mutation associated with <jats:italic>lbab<\/jats:italic> disease. A total of 122 genes and expressed sequence tags at the <jats:italic>lbab<\/jats:italic> region were screened for possible mutation by using genomic DNA from <jats:italic>lbabl\/lbab, lbab<\/jats:italic>\/+, and +\/+ B6 mice and high throughput temperature gradient capillary electrophoresis. A sequence difference was identified in one of the amplicons of gene <jats:italic>Nppc<\/jats:italic> between <jats:italic>lbab\/lbab<\/jats:italic> and +\/+ mice. One-step reverse transcriptase polymerase chain reaction was performed to validate the difference of <jats:italic>Nppc<\/jats:italic> in different types of mice at the mRNA level. The mutation of <jats:italic>Nppc<\/jats:italic> was unique in <jats:italic>lbab\/lbab<\/jats:italic> mice among multiple mouse inbred strains. The mutation of <jats:italic>Nppc<\/jats:italic> is co-segregated with <jats:italic>lbab<\/jats:italic> disease in 200 progenies produced from heterozygous <jats:italic>lbab<\/jats:italic>\/+ parents.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>A single nucleotide mutation of <jats:italic>Nppc<\/jats:italic> is associated with dwarfism in <jats:italic>lbab\/lbab<\/jats:italic> mice. Current genome information and technology allow us to efficiently identify single nucleotide mutations from roughly mapped disease loci. The <jats:italic>lbab<\/jats:italic> mouse is a useful model for hereditary human achondroplasia.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2156-8-16","type":"journal-article","created":{"date-parts":[[2007,4,30]],"date-time":"2007-04-30T15:53:17Z","timestamp":1177948397000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["A single nucleotide mutation in Nppc is associated with a long bone abnormality in lbab mice"],"prefix":"10.1186","volume":"8","author":[{"given":"Yan","family":"Jiao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Jiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HongBin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leah Rae","family":"Donahue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinmin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce A","family":"Roe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Stuart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weikuan","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,4,17]]},"reference":[{"key":"495_CR1","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1542\/peds.111.6.1253","volume":"111","author":"PA Lee","year":"2003","unstructured":"Lee PA, Chernausek SD, Hokken-Koelega AC, Czernichow P: International Small for Gestational Age Advisory Board consensus development conference statement: management of short children born small for gestational age, April 24-October 1, 2001. Pediatrics. 2003, 111: 1253-1261. 10.1542\/peds.111.6.1253.","journal-title":"Pediatrics"},{"key":"495_CR2","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1056\/NEJM199501053320113","volume":"332","author":"CA Francomano","year":"1995","unstructured":"Francomano CA: The genetic basis of dwarfism. N Engl J Med. 1995, 332: 58-59. 10.1056\/NEJM199501053320113.","journal-title":"N Engl J Med"},{"key":"495_CR3","unstructured":"Wikipedia: [http:\/\/en.wikipedia.org\/wiki\/Dwarfism]"},{"key":"495_CR4","unstructured":"TJL: [http:\/\/www.jax.org\/mmr\/lbab.html]"},{"key":"495_CR5","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1038\/sj.ejhg.5201587","volume":"14","author":"M Karayiorgou","year":"2006","unstructured":"Karayiorgou M, Gogos JA: Schizophrenia genetics: uncovering positional candidate genes. Eur J Hum Genet. 2006, 14: 512-519. 10.1038\/sj.ejhg.5201587.","journal-title":"Eur J Hum Genet"},{"key":"495_CR6","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1007\/s00335-004-2414-0","volume":"16","author":"Y Jiao","year":"2005","unstructured":"Jiao Y, Li X, Beamer WG, Yan J, Tong Y, Goldowitz D, Roe B, Gu W: A deletion causing spontaneous fracture identified from a candidate region of mouse Chromosome 14. Mamm Genome. 2005, 16: 20-31. 10.1007\/s00335-004-2414-0.","journal-title":"Mamm Genome"},{"key":"495_CR7","doi-asserted-by":"publisher","first-page":"1239","DOI":"10.1534\/genetics.105.044487","volume":"171","author":"Y Jiao","year":"2005","unstructured":"Jiao Y, Yan J, Zhao Y, Donahue LR, Beamer WG, Li X, Roe BA, Ledoux MS, Gu W: Carbonic anhydrase-related protein VIII deficiency is associated with a distinctive lifelong gait disorder in waddles mice. Genetics. 2005, 171: 1239-1246. 10.1534\/genetics.105.044487.","journal-title":"Genetics"},{"key":"495_CR8","unstructured":"MGI: [http:\/\/www.informatics.jax.org\/]"},{"key":"495_CR9","unstructured":"Ensembl: [http:\/\/www.ensembl.org\/Mus_musculus\/mapview]"},{"key":"495_CR10","unstructured":"Pimer3: [http:\/\/frodo.wi.mit.edu\/]"},{"key":"495_CR11","doi-asserted-by":"publisher","first-page":"4016","DOI":"10.1073\/pnas.071389098","volume":"98","author":"H Chusho","year":"2001","unstructured":"Chusho H, Tamura N, Ogawa Y, Yasoda A, Suda M, Miyazawa T, Nakamura K, Nakao K, Kurihara T, Komatsu Y, Itoh H, Tanaka K, Saito Y, Katsuki M: Dwarfism and early death in mice lacking C-type natriuretic peptide. Proc Natl Acad Sci U S A. 2001, 98: 4016-4021. 10.1073\/pnas.071389098.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"495_CR12","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1038\/nm971","volume":"10","author":"A Yasoda","year":"2004","unstructured":"Yasoda A, Komatsu Y, Chusho H, Miyazawa T, Ozasa A, Miura M, Kurihara T, Rogi T, Tanaka S, Suda M, Tamura N, Ogawa Y, Nakao K: Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med. 2004, 10: 80-86. 10.1038\/nm971.","journal-title":"Nat Med"},{"key":"495_CR13","doi-asserted-by":"publisher","first-page":"11695","DOI":"10.1074\/jbc.273.19.11695","volume":"273","author":"A Yasoda","year":"1998","unstructured":"Yasoda A, Ogawa Y, Suda M, Tamura N, Mori K, Sakuma Y, Chusho H, Shiota K, Tanaka K, Nakao K: Natriuretic peptide regulation of endochondral ossification. Evidence for possible roles of the C-type natriuretic peptide\/guanylyl cyclase-B pathway. J Biol Chem. 1998, 273: 11695-11700. 10.1074\/jbc.273.19.11695.","journal-title":"J Biol Chem"},{"key":"495_CR14","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1126\/science.1672777","volume":"252","author":"KJ Koller","year":"1991","unstructured":"Koller KJ, Lowe DG, Bennett GL, Minamino N, Kangawa K, Matsuo H, Goeddel DV: Selective activation of the B natriuretic peptide receptor by C-type natriuretic peptide (CNP). Science. 1991, 252: 120-123. 10.1126\/science.1672777.","journal-title":"Science"},{"key":"495_CR15","doi-asserted-by":"publisher","first-page":"1024","DOI":"10.1016\/j.peptides.2004.08.027","volume":"26","author":"S Schulz","year":"2005","unstructured":"Schulz S: C-type natriuretic peptide and guanylyl cyclase B receptor. Peptides. 2005, 26: 1024-1034. 10.1016\/j.peptides.2004.08.027.","journal-title":"Peptides"},{"key":"495_CR16","doi-asserted-by":"publisher","first-page":"5089","DOI":"10.1242\/jcs.02618","volume":"118","author":"P Krejci","year":"2005","unstructured":"Krejci P, Masri B, Fontaine V, Mekikian PB, Weis M, Prats H, Wilcox WR: Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis. J Cell Sci. 2005, 118: 5089-5100. 10.1242\/jcs.02618.","journal-title":"J Cell Sci"},{"key":"495_CR17","doi-asserted-by":"publisher","first-page":"356","DOI":"10.1007\/BF00356554","volume":"5","author":"EP O'Brien","year":"1994","unstructured":"O'Brien EP, Novak EK, Keller SA, Poirier C, Guenet JL, Swank RT: Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm. Mamm Genome. 1994, 5: 356-360. 10.1007\/BF00356554.","journal-title":"Mamm Genome"},{"key":"495_CR18","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1038\/ng0394-314","volume":"6","author":"M Velinov","year":"1994","unstructured":"Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI, Gusella JF, Tsipouras P: The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994, 6: 314-317. 10.1038\/ng0394-314.","journal-title":"Nat Genet"},{"key":"495_CR19","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1007\/s003359900777","volume":"9","author":"C Poirier","year":"1998","unstructured":"Poirier C, Blot S, Fernandes M, Carle GF, Stanescu V, Stanescu R, Guenet JL: A high-resolution genetic map of mouse chromosome 19 encompassing the muscle-deficient osteochondrodystrophy (mdf-ocd) region. Mamm Genome. 1998, 9: 390-391. 10.1007\/s003359900777.","journal-title":"Mamm Genome"},{"key":"495_CR20","doi-asserted-by":"publisher","first-page":"11661","DOI":"10.1128\/JVI.77.21.11661-11673.2003","volume":"77","author":"P Lundberg","year":"2003","unstructured":"Lundberg P, Welander P, Openshaw H, Nalbandian C, Edwards C, Moldawer L, Cantin E: A locus on mouse chromosome 6 that determines resistance to herpes simplex virus also influences reactivation, while an unlinked locus augments resistance of female mice. J Virol. 2003, 77: 11661-11673. 10.1128\/JVI.77.21.11661-11673.2003.","journal-title":"J Virol"}],"container-title":["BMC Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2156-8-16.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,31]],"date-time":"2021-08-31T22:17:10Z","timestamp":1630448230000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcgenet.biomedcentral.com\/articles\/10.1186\/1471-2156-8-16"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,4,17]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["495"],"URL":"https:\/\/doi.org\/10.1186\/1471-2156-8-16","relation":{},"ISSN":["1471-2156"],"issn-type":[{"value":"1471-2156","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,4,17]]},"assertion":[{"value":"20 November 2006","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 April 2007","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 April 2007","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"16"}}