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.

Recommendations:
– 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.

Test #: C112
Cost: 35 € (excl. VAT)
Time: 7-10 days