Breeds Affected: Abyssinian, Somali
Samples Accepted: Blood, Buccal Swabs
Disease Information: The CRX gene codes for a protein involved in eye development. A mutation in this gene results in blindness by 6-8 weeks of age.
Inheritance Information: Rdy is autosomal dominant, meaning that animals with just one copy of this allele will be affected. 50% of their offspring will also be affected.
The possible genotypes are:
n/n The cat is normal, and cannot produce affected offspring.
n/RDY The cat is affected, and 50% of the offspring will be affected.
RDY/RDY The cat is affected, and 100% of the offspring will also be affected.
– Affected animals (n/RDY, RDY/RDY) should not be used for breeding.
Test Information: This mutation test identifies a single base deletion in the CRX gene.
Menotti-Raymond, M., Deckman, KH., David, VA., Myrkalo, J., O’Brien, SJ., Narfstrom, K.: Mutation discovered in a feline model of human congenital retinal blinding disease. Invest Ophthalmol Vis Sci 51:2852-2859, 2010. Pubmed reference: 20053974. Doi: 10.1167/iovs.09-4261.
Further information is available at the Online Mendelian Inheritance in Animals website.