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Chondrodysplasia (Munchkin)

General description

Chondrodysplasia in Munchkin cats is caused by a genetic variant in the UGDH gene. Both short-legged and long-legged animals are found within the breed. These short-legged cats are known as “Standard Munchkins” and have the shortened front and hind legs characteristic of the breed. Long-legged animals are referred to as “non-standard Munchkins” and have normal limb lengths.
This genetic variant affects the development of cartilage and bone tissue and results in stunted growth of the long bones. Affected cats exhibit disproportionate dwarfism with significantly shortened front and hind limbs. In comparison to the limbs, the head and trunk appear to be largely normally developed.
Cats with one copy of the variant exhibit the standard short-legged Munchkin phenotype. Animals without this variant have long legs. No cats with two copies of the variant have been observed to date. It is therefore assumed that embryos with two mutated copies of a gene are not viable, which explains the smaller litters frequently observed when two short-legged Munchkin cats are bred together.

Breeds

Munchkin and Related Breed Lines

Test number Included only in LABOGeneticsXXL – Cat
Inheritance autosomal dominant (homozygous, presumably embryonically lethal)
Gene UGDH
Mutation DEL INS
Literature OMIA:002541-9685