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Short-legged cats showed disproportionate dwarfism (chondrodysplasia) in which all four legs are short and are referred as standard Munchkin cats. Long-legged animals are referred as non-standard Munchkin cats. A previous study using genome-wide single nucleotide polymorphisms (SNPs) for genome-wide association analysis identified a significantly associated region at 168\u2013184\u2009Mb on feline chromosome (FCA) B1.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Results<\/jats:title>\n<jats:p>In this study, we validated the critical region on FCA B1 using a case-control study with 89 cats and 14 FCA B1-SNPs. A structural variant within <jats:italic>UGDH<\/jats:italic> (NC_018726.2:g.173294289_173297592delins108, <jats:italic>Felis catus 8.0<\/jats:italic>, equivalent to NC_018726.3:g.174882895_174886198delins108, <jats:italic>Felis catus 9.0<\/jats:italic>) on FCA B1 was perfectly associated with the phenotype of short-legged standard Munchkin cats.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>This <jats:italic>UGDH<\/jats:italic> structural variant very likely causes the chondrodysplastic (standard) phenotype in Munchkin cats. The lack of homozygous mutant phenotypes and reduced litter sizes in standard Munchkin cats suggest an autosomal recessive lethal trait in the homozygote state. We propose an autosomal dominant mode of inheritance for the chondrodysplastic condition in Munchkin cats.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12863-020-00875-x","type":"journal-article","created":{"date-parts":[[2020,6,30]],"date-time":"2020-06-30T07:02:49Z","timestamp":1593500569000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A structural UGDH variant associated with standard Munchkin cats"],"prefix":"10.1186","volume":"21","author":[{"given":"Ann-Kathrin","family":"Struck","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Braun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim Aline","family":"Detering","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Dziallas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jasmin","family":"Ne\u00dfler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Fehr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Metzger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3516-836X","authenticated-orcid":false,"given":"Ottmar","family":"Distl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,6,30]]},"reference":[{"issue":"449","key":"875_CR1","first-page":"131","volume":"56","author":"H William-Jones","year":"1944","unstructured":"William-Jones H. 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The present study had been specifically approved by the Institutional Animal Care and Use Committee (IACUC), the Lower Saxony state veterinary office at the Nieders\u00e4chsisches Landesamt f\u00fcr Verbraucherschutz und Lebensmittelsicherheit, Oldenburg, Germany (registration number 33.9\u201342502-05-18A284).Written informed approval was acquired from the cat owners and breeders to collect samples and measurements for current research, publication and further investigations.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"67"}}