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Gangliosidosis GM1 GLB1 (Shiba Inu Type)

Gangliosidosis GM1 GLB1 (Shiba Inu Type)

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Test Overview:

Genetic testing is highly recommended for Shiba Inu breeders to identify carriers and prevent carrier-to-carrier matings. Avoiding breeding two carriers drastically reduces the risk of producing affected puppies. Continuous genotyping and careful selection are recommended to manage and eventually reduce the mutation prevalence in the breed

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Galactosidase beta 1 (GLB1) on Chromosome 23

Variant Detected:

GLB1:c.1649delC in exon 15

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Yamato, O. et al. GM1 gangliosidosis in Shiba dogs. (2000) Vet Rec 146:493-496.

Associated Breed(s):

Mixed Breed, Shiba Inu, Shih tzu,

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