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Breeds Affected: Japanese Shorthair

Samples Accepted: Blood, Buccal Swabs

Disease Information: GM2-Gangliosidosis (variant 0), a lysosomal storage disorder, is also known as Sandhoff disease. It is a neuromuscular disease, and clinical signs can be seen in affected kittens between 6-8 weeks of age. They are generally smaller than littermates, and have tremors, a lack of coordination, and problems judging distance. These symptoms progress to the point where muscle control is so disrupted as to make walking and eating difficult, leading to euthanasia around 4 months of age.

Inheritance Information: GM2 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 cat is normal, and cannot produce affected offspring.

N/gm2 The cat is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/gm2 carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.

gm2/gm2 The cat is affected. If bred to a normal animal, 100% of the offspring will be carriers. If bred to an N/gm2 carrier, 50% of the offspring will be carriers and 50% will be affected.


– Carriers may be bred to normal animals (N/gm2 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/gm2 x N/gm2) is not recommended due to the possibility of 25% of the offspring being affected.

– Affected animals (gm2/gm2) should not be used for breeding.

Test Information:This mutation test identifies a single base pair change in the HEXB gene.

Kanae, Y., Endoh, D., Yamato, O., Hayashi, D., Matsunaga, S., Ogawa, H., Maede, Y., Hayashi, M.: Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats. Res Vet Sci 82:54-60, 2007. Pubmed reference: 16872651. DOI: 10.1016/j.rvsc.2006.05.007.

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

Test #: C107

Cost: 35 € (excl. VAT)

Time: 7-10 days

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