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Breeds Affected: American Bulldog

Samples Accepted: Blood, Buccal Swabs

Disease Information: NCL10 is a lysosomal storage disease with symptoms normally noted around 2 years of age. Disease progression is slow. Symptoms include a lack of coordination (including under- and over-reaching with limbs when moving), and partial paralysis of the lower limbs, leading to death around the age of 7 years.

Inheritance Information: NCL10 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/ncl10 The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/nlc10 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
ncl10/ncl10 The dog is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/nlc10 carrier, 50% of the offspring will be carriers and 50% will be affected.

– Carriers may be bred to normal animals (N/ncl10 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/ncl10 x N/ncl10) is not recommended due to the possibility of 25% of the offspring being affected.
– Affected animals (ncl10/ncl10) should not be used for breeding.

Test Information: This mutation test identifies a single base change in exon 5 of the CTSD gene.

Awano, T., Katz, ML., O’Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS.: A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006. Pubmed reference: 16386934. Doi: 10.1016/j.ymgme.2005.11.005.

Further information is available at the Online Mendelian Inheritance in Animals website.

Test #: D189

Cost: 35 € (excl. VAT)

Time: 7-10 days

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