A structural UGDH variant associated with standard Munchkin cats.
Ann-Kathrin StruckMarina BraunKim Aline DeteringPeter DziallasJasmin NeßlerMichael FehrJulia MetzgerOttmar DistlPublished in: BMC genetics (2020)
This UGDH 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.