Breeds Affected: Golden Retriever
Samples Accepted: Blood, Buccal Swabs
Disease Information: NCL5 is a lysosomal storage disease which is usually diagnosed when affected animals are approximately 15 months of age. Symptoms include vision loss, tremors, anxiety, aggression, and seizures.
Inheritance Information: NCL5 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/ncl5 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/nlc5 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
ncl5/ncl5 The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/nlc5 carrier, 50% of the offspring will be carriers and 50% will be affected.
– Carriers may be bred to normal animals (N/ncl5 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/ncl5 x N/ncl5) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (ncl5/ncl5) should not be used for breeding.
Test Information: This mutation test identifies a two nucleotide deletion in exon 4 of the CLN5 gene.
Gilliam, D., Kolicheski, A., Johnson, G.S., Mhlanga-Mutangadura, T., Taylor, J.F., Schnabel, R.D., Katz, M.L..: Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5. Mol Genet Metab 115:101-9, 2015. Pubmed reference: 25934231. DOI: 10.1016/j.ymgme.2015.04.001
Further information is available at the Online Mendelian Inheritance in Animals website.