A structural UGDH variant associated with standard Munchkin cats

Ann-Kathrin Struck,Ottmar Distl,Julia Metzger,Kim Aline Detering,Michael Fehr,Peter Dziallas,Jasmin Neßler,Marina Braun

doi:10.1186/s12863-020-00875-x

Ann-Kathrin Struck, Ottmar Distl + Show 6 more

Open Access

https://doi.org/10.1186/s12863-020-00875-x

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Abstract

BackgroundMunchkin cats were founded on a naturally occurring mutation segregating into long-legged and short-legged types. 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 168–184 Mb on feline chromosome (FCA) B1.ResultsIn 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 UGDH (NC_018726.2:g.173294289_173297592delins108, Felis catus 8.0, equivalent to NC_018726.3:g.174882895_174886198delins108, Felis catus 9.0) on FCA B1 was perfectly associated with the phenotype of short-legged standard Munchkin cats.ConclusionThis 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.

Highlights

Munchkin cats were founded on a naturally occurring mutation segregating into long-legged and short-legged types
We identified a structural UDP-glucose 6-dehydrogenase (UGDH) variant perfectly segregating with the standard Munchkin cat phenotype
Subtype Genetta resulted from the outcrossing program of standard Munchkin with Bengal cats and this subtype is recognized by The International Cat Association (TICA) as an experimental breed

Summary

Introduction

Munchkin cats were founded on a naturally occurring mutation segregating into long-legged and short-legged types. Short-legged cats showed disproportionate dwarfism (chondrodysplasia) in which all four legs are short and are referred as standard Munchkin cats. Today’s Munchkin cats presumably have their roots in a female cat with all four short legs on which Sandra Hockenedel [4] used to found the breed in 1983. This short-legged animal gave birth to a healthy litter, with half of the kittens showing short legs. This shortlegged female cat and one of its short-legged male kittens established today’s Munchkin cat breed.

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