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Mucolipidosis II (Feline)

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Test Overview:

Genetic testing for the GNPTAB mutation should be performed on all breeding cats in affected breeds or lines. Cats with two copies of the mutation (affected) should never be bred as they develop severe disease. Cats with one copy of the mutation (carriers) should be bred only to cats that are clear (no mutation) to prevent affected offspring. Avoid breeding two carriers together to prevent producing affected kittens. Selective breeding based on genetic testing can gradually reduce the mutation frequency while preserving genetic diversity. Transparent sharing of genetic test results with breeders and buyers supports responsible breeding practices.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

GNPTAB

Variant Detected:

c.2644C>T

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Associated Breed(s):

Mixed Breed / Unknown Breed (Feline),
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