Osteochondrodysplasia – Scottish Fold
Kodas: K399
Short description
Scottish Fold cats, named for their unique ear shape, show both straight and folded ear phenotypes.
General information
Scottish Fold cats, named for their unique ear shape, show both straight and folded ear phenotypes. The fold type results from a dominant mutation to the gene TRPV4.
This mutation also affects cartilage development, causing a congenital osteochondrodysplasia. All fold kittens are born with straight ears, folding of the ears starts as early as 3 weeks of age. Ear folding is a consistent feature, the age of onset and progression of osteochondrodysplasia is highly variable.
Specifications
| Breeds | |
|---|---|
| Gene | TRPV4 |
| Chromosome | D3 |
| Mutation | c.1024G>T |
| Organ | Skeletal system |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Incomplete Dominant |
Clinical features
Folded ears and osteochondrodysplasia involving cartilage- and bone-related health problems including misshapen toes, thickened and inflexible tails, and accelerated progressive osteoarthritis. Age of onset and progression of osteochondrodysplasia is highly variable. Cats with two copies of the fold mutation are prone to more extreme health problems affecting cartilage and bone.
References
Pubmed ID: 27063440
Year published: 2016
Omia ID: 319
Omia variant ID:
Turnaround information
- 10 working days