{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T19:15:25Z","timestamp":1788894925206,"version":"build-2803163510"},"reference-count":43,"publisher":"The Company of Biologists","issue":"19","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2005,10,1]]},"abstract":"<jats:p>Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder characterized by pleiotropic developmental anomalies of the limbs, teeth, face and eyes that was shown recently to be caused by mutations in the gap junction protein alpha 1 gene (GJA1), encoding connexin 43 (Cx43). In the course of performing an N-ethyl-N-nitrosourea mutagenesis screen, we identified a dominant mouse mutation that exhibits many classic symptoms of ODDD, including syndactyly, enamel hypoplasia, craniofacial anomalies and cardiac dysfunction. Positional cloning revealed that these mice carry a point mutation in Gja1 leading to the substitution of a highly conserved amino acid (G60S) in Cx43. In vivo and in vitro studies revealed that the mutant Cx43 protein acts in a dominant-negative fashion to disrupt gap junction assembly and function. In addition to the classic features of ODDD,these mutant mice also showed decreased bone mass and mechanical strength, as well as altered hematopoietic stem cell and progenitor populations. Thus,these mice represent an experimental model with which to explore the clinical manifestations of ODDD and to evaluate potential intervention strategies.<\/jats:p>","DOI":"10.1242\/dev.02011","type":"journal-article","created":{"date-parts":[[2005,9,9]],"date-time":"2005-09-09T15:57:38Z","timestamp":1126281458000},"page":"4375-4386","source":"Crossref","is-referenced-by-count":207,"title":["A\n                    <i>Gja1<\/i>\n                    missense mutation in a mouse model of oculodentodigital dysplasia"],"prefix":"10.1242","volume":"132","author":[{"given":"Ann M.","family":"Flenniken","sequence":"first","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy R.","family":"Osborne","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"},{"name":"Department of Medicine, Medical Sciences Building, 1 King's College Circle,University of Toronto, Toronto, Ontario M5S 1A8, Canada"},{"name":"Department of Molecular and Medical Genetics, Medical Sciences Building, 1 King's College Circle, University of Toronto, Toronto, Ontario M5S 1A8,Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Anderson","sequence":"additional","affiliation":[{"name":"Institute of Medical Science, University of Toronto, Toronto, Ontario M5S 1A8,Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Ciliberti","sequence":"additional","affiliation":[{"name":"Institute of Biomaterials and Biomedical Engineering, University of Toronto,Toronto, Ontario M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig","family":"Fleming","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanne E. I.","family":"Gittens","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Western Ontario,Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiang-Qun","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Western Ontario,Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lois B.","family":"Kelsey","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crystal","family":"Lounsbury","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, University of Western Ontario, Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Moreno","sequence":"additional","affiliation":[{"name":"Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian J.","family":"Nieman","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre, The Hospital for Sick Children, 555 University Avenue Toronto, Ontario M5G 1X8, Canada"},{"name":"Department of Medical Biophysics, University of Toronto, Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Peterson","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawei","family":"Qu","sequence":"additional","affiliation":[{"name":"Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendi","family":"Roscoe","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, University of Western Ontario, Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, University of Western Ontario, Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Tong","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Western Ontario,Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregory I. L.","family":"Veitch","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Western Ontario,Dental Science Building, London, Ontario N6A 5C1, Canada"},{"name":"Department of Anatomy and Cell Biology, University of Western Ontario, Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Voronina","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Vukobradovic","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geoffrey A.","family":"Wood","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonghong","family":"Zhu","sequence":"additional","affiliation":[{"name":"Cardiovascular Research, The Hospital for Sick Children, Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph A.","family":"Zirngibl","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Medical Sciences Building, 1 King's College Circle, University of Toronto, Toronto, Ontario M5S 1A8,Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane E.","family":"Aubin","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"},{"name":"Department of Molecular and Medical Genetics, Medical Sciences Building, 1 King's College Circle, University of Toronto, Toronto, Ontario M5S 1A8,Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donglin","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Western Ontario,Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit G.","family":"Bruneau","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Medical Sciences Building, 1 King's College Circle, University of Toronto, Toronto, Ontario M5S 1A8,Canada"},{"name":"Cardiovascular Research, The Hospital for Sick Children, Toronto, Ontario M5S 1A8, Canada"},{"name":"Heart and Stroke\/Richard Lewar Centre of Excellence, University of Toronto,Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Grynpas","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto,Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet E.","family":"Henderson","sequence":"additional","affiliation":[{"name":"Department of Medicine and Centre for Bone and Periodontal Research, McGill University, 740 Avenue Dr Penfield, Montreal, Quebec H3A 1A4, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Mark","family":"Henkelman","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre, The Hospital for Sick Children, 555 University Avenue Toronto, Ontario M5G 1X8, Canada"},{"name":"Department of Medical Biophysics, University of Toronto, Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"McKerlie","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"},{"name":"Department of Laboratory Medicine and Pathobiology, University of Toronto,Toronto, Ontario M5S 1A8, Canada"},{"name":"Integrative Biology Research Program, The Hospital for Sick Children, Toronto,Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G.","family":"Sled","sequence":"additional","affiliation":[{"name":"Mouse Imaging Centre, The Hospital for Sick Children, 555 University Avenue Toronto, Ontario M5G 1X8, Canada"},{"name":"Department of Medical Biophysics, University of Toronto, Toronto, Ontario M5S 1A8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William L.","family":"Stanford","sequence":"additional","affiliation":[{"name":"Centre For Modeling Human Disease, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 600 University Avenue, Toronto, Ontario M5G 1X5, Canada"},{"name":"Institute of Medical Science, University of Toronto, Toronto, Ontario M5S 1A8,Canada"},{"name":"Institute of Biomaterials and Biomedical Engineering, University of Toronto,Toronto, Ontario M5G 1X8, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dale W.","family":"Laird","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Western Ontario,Dental Science Building, London, Ontario N6A 5C1, Canada"},{"name":"Department of Anatomy and Cell Biology, University of Western Ontario, Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald M.","family":"Kidder","sequence":"additional","affiliation":[{"name":"Department of Physiology and Pharmacology, University of Western Ontario,Dental Science Building, London, Ontario N6A 5C1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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