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Positional cloning and candidate gene sequencing localized the causative point mutations within the genes coding for natriuretic peptide receptor C (NPR-C) and filamin b (FLNB), respectively. Mice that carry a mutation in Npr3 exhibit a skeletal overgrowth phenotype, resulting in an elongated body and kyphosis. Skm2 mice, carrying a mutation in Flnb, present with scoliosis and lordosis. These mutant mice will serve as useful models for the study of vertebral malformations.<\/jats:p>","DOI":"10.1534\/g3.113.007310","type":"journal-article","created":{"date-parts":[[2013,8,27]],"date-time":"2013-08-27T21:17:32Z","timestamp":1377638252000},"page":"1753-1758","source":"Crossref","is-referenced-by-count":13,"title":["Characterization of Two ENU-Induced Mutations Affecting Mouse Skeletal Morphology"],"prefix":"10.1093","volume":"3","author":[{"given":"Shauna M","family":"Dauphinee","sequence":"first","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Complex Traits Group, McGill University, Montreal, Quebec H3G 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan M","family":"Eva","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Complex Traits Group, McGill University, Montreal, Quebec H3G 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyoko E","family":"Yuki","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Complex Traits Group, McGill University, Montreal, Quebec H3G 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Herman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Complex Traits Group, McGill University, Montreal, Quebec H3G 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia M","family":"Vidal","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Complex Traits Group, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Department of Medicine, McGill University, Montreal, Quebec H3G 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Malo","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Department of Human Genetics, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Complex Traits Group, McGill University, Montreal, Quebec H3G 0B1, Canada"},{"name":"Department of Medicine, McGill University, Montreal, Quebec H3G 0B1, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2013,10,1]]},"reference":[{"key":"2021041906454242200_bib1","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1093\/hmg\/ddm188","article-title":"Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.","volume":"17","author":"Farrington-Rock","year":"2008","journal-title":"Hum. 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