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Breeds Affected: Alaskan Husky

Samples Accepted: Blood, Buccal Swabs

Disease Information: GM1 Gangliosidosis (GM1-G) is a fatal lysosomal storage disease. Affected Alaskan Huskies have proportional dwarfism, and show predictable neurologic dysfunction as early as 6-8 weeks of age, and a clinical progression leading to death usually at less than 1 year of age.

Inheritance Information: GM1-G 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/gm1g The dog is a carrier, and can pass the allele on to approximately 50% of any offspring. If bred to another N/gm1g carrier, approximately 25% of the offspring will be normal, 50% will be carriers, and 25% will be affected.
gm1g/gm1g The dog is affected, and will not live long enough to reproduce.

– Carriers may be bred to normal animals (N/gm1g 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/gm1g x N/gm1g) is not recommended due to the possibility of 25% of the offspring being affected.

Test Information: This mutation test identifies a 19 base pair duplication in exon 15 of the GLB1 gene.

Kreutzer, R., Leeb, T., Muller, G., Moritz, A., Baumgartner, W.: A duplication in the canine beta-galactosidase gene GLB1 causes exon skipping and GM1-gangliosidosis in Alaskan huskies. Genetics 170:1857-61, 2005. Pubmed reference: 15944348. DOI: 10.1534/genetics.105.042580.

Müller, G., Alldinger, S., Moritz, A., Zurbriggen, A., Kirchhof, N., Sewell, A., Baumgärtner, W.: GM1-gangliosidosis in Alaskan huskies: clinical and pathologic findings. Vet Pathol 38:281-90, 2001. Pubmed reference: 11355658.

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

Gentest #: D125

Preis: 35 € (ohne MwSt.)

Testdauer: 7-10 Tage

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