Breeds Affected: Border Collie, Australian Cattle Dog
Samples Accepted: Blood, Buccal Swabs
Disease Information: NCL5 is a lysosomal storage disease which is usually diagnosed when affected animals are 18-24 months of age. Symptoms include vision loss, poor coordination, and worsening behavioural changes including aggression, hyperactivity and dementia.
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 single base change in exon 4 of the CLN5 gene.
Kolicheski, A., Johnson, G.S., O’Brien, D.P., Mhlanga-Mutangadura, T., Gilliam, D., Guo, J., Anderson-Sieg, T.D., Schnabel, R.D., Taylor, J.F., Lebowitz, A., Swanson, B., Hicks, D., Niman, Z.E., Wininger, F.A., Carpentier, M.C., Katz, M.L.: Australian Cattle Dogs with Neuronal Ceroid Lipofuscinosis are Homozygous for a CLN5 Nonsense Mutation Previously Identified in Border Collies. J Vet Intern Med :, 2016. Pubmed reference: 27203721. DOI: 10.1111/jvim.13971
Melville, SA., Wilson, CL., Chiang, CS., Studdert, VP., Lingaas, F., Wilton, AN.: A mutation in canine CLN5 causes neuronal ceroid lipofuscinosis in Border collie dogs. Genomics 86:287-94, 2005. Pubmed reference: 16033706. Doi: 10.1016/j.ygeno.2005.06.005.
Further information is available at the Online Mendelian Inheritance in Animals website.