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Gangliosidosis GM2A (Feline)

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Test Overview:

Test all breeding cats for the GM2A gene mutation to identify carriers (one copy) and affected (two copies) cats. Do not breed two carrier cats together, as this could produce affected kittens with the fatal disease. Carrier cats can be bred with clear cats (no mutation) to avoid affected offspring. Cats affected with GM2A gangliosidosis should never be bred. Share genetic test results with breeders and buyers for responsible breeding to eliminate the disorder.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

GM2A

Variant Detected:

c.516_519del

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

Recommended Screening:

Genetic testing can determine if a cat is a carrier of Gangliosidosis GM2A.

Research Citation(s):

Martin, DR., Cox, NR., Morrison, NE., Kennamer, DM., Peck, SL., Dodson, AN., Gentry, AS., Griffin, B., Rolsma, MD., Baker, HJ. : Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol (Berl) 110:443-50, 2005. Pubmed reference: 16200419

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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