Breeds Affected: Tibetan Terrier
Samples Accepted: Blood, Buccal Swabs
Disease Information: NCL12 is a disease with an onset between 4-6 years of age. Affected animals may show behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline.
Inheritance Information: NCL12 is autosomal recessive, meaning that animals with two copies of this allele will be affected. Animals with one copy of the gene will be clinically-normal carriers.
The possible genotypes are:
N/N The dog is normal, and cannot produce affected offspring.
N/ncl12 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/nlc12 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
ncl12/ncl12 The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/nlc12 carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/ncl12 x N/N) without any risk of producing affected offspring. The offspring should be tested before breeding to determine if they are carriers or normal.
– Breeding two carriers (N/ncl12 x N/ncl12) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (ncl12/ncl12) should not be used for breeding.
Test Information: This mutation test identifies a single base pair deletion in the ATP13A2 gene.
Farias, F.H., Zeng, R., Johnson, G.S., Wininger, F.A., Taylor, J.F., Schnabel, R.D., McKay, S.D., Sanders, D.N., Lohi, H., Seppälä, E.H., Wade, C.M., Lindblad-Toh, K., O’Brien, D.P., Katz, M.L.: A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers. Neurobiol Dis 42:468-74, 2011. Pubmed reference: 21362476. Doi: 10.1016/j.nbd.2011.02.009.
Further information is available at the Online Mendelian Inheritance in Animals website.