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Phenotype: The Scottish Fold breed produces cats with both straight and folded ear phenotypes. A single copy of the fold mutation produces the breed's characteristic folded ears, and these cats may also have cartilage- and bone-related health problems including misshapen toes, thickened and inflexible tails, and accelerated progressive osteoarthritis. Age of onset and progression of such secondary effects are highly variable. Cats with two copies of the fold mutation are prone to more extreme health problems affecting cartilage and bone.
Mode of Inheritance: Autosomal dominant
Alleles: N = Normal (straight ears), SF = Fold mutation
Breeds appropriate for testing: Foldex, Highland Fold, Highland Straight, Scottish Fold, Scottish Straight
Explanation of Results:
- Cats with N/N genotype will have straight ears. They cannot transmit this fold variant to their offspring.
- Cats with N/SF genotype will have folded ears and may develop health issues related to cartilage and bone. They will transmit this fold variant to 50% of their offspring, and those offspring will also have folded ears.
- Cats with SF/SF genotype will have folded ears and may have severe bone, cartilage, and joint issues. They will transmit this fold variant to all of their offspring, and those offspring will also have folded ears.
The Scottish Fold breed produces cats with both straight and folded ear phenotypes. The fold type results from a mutation in a single gene. The mutation is dominant and a single copy of the mutation affects cartilage development resulting in the Scottish fold osteochondrodysplasia (SFOCD) phenotype, which includes malformation of the distal forelimbs and hindlimbs, malformation of the tail and fold ears.
All fold kittens are born with straight ears. Ear folding starts as early as 3 weeks of age. Other impacts of the mutation are variable but most consistently present as smaller feet resulting from misshapen toes, thickened and inflexible tails, and accelerated progressive osteoarthritis. Age of onset and progression of secondary effects are highly variable but ear folding is a consistent feature. Kittens with two copies are prone to more extreme health problems affecting cartilage and bone.
Research by Dr. B. Gandolfi in the laboratory of Dr. Leslie Lyons, University of Missouri, identified the mutation associated with the fold phenotype.
Testing for Scottish Fold assists owners and breeders to confirm presence and number of copies of the Fold mutation in young kittens. Knowledge of the genotype status will inform potential risk for future health problems.
Type of Test
|Test Result||Scottish Fold|
|N/N||No copies of the fold mutation.|
|N/SF||Affected. 1 copy of the Fold mutation. Cat will have folded ears.|
|SF/SF||Affected. 2 copies of the Fold mutation. Cat will have folded ears and may have severe bone and joint issues.|
Gandolfi, B., Alamri, S., Darby, W.G., Adhikari, B., Lattimer, J.C., Malik, R., Wade, C.M., Lyons, L.A., Cheng, J., Bateman, J.F., McIntyre, P., Lamandé, S.R., & Haase, B. (2016). A dominant TRPV4 variant underlies osteochondrodysplasia in Scottish fold cats. Osteoarthritis and Cartilage, 24(8), 1441-1450. doi: 10.1016/j.joca.2016.03.019