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Cobalamin Malabsorption: Cubilin Deficiency (Border Collie Type)

Cobalamin Malabsorption: Cubilin Deficiency (Border Collie Type)

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Test Overview:

Test all breeding for the CUBN mutation. Avoid breeding two carriers to prevent affected offspring. Breed carriers only to clear dogs. Do not breed affected dogs. Use combined genetic testing and pedigree information to reduce mutation frequency while preserving genetic diversity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

CUBN

Variant Detected:

chr2:19974334 (canFam3): 1 bp deletion (del C)

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

Recommended Screening:

Genetic testing of the CUBN gene will reliably determine if a dog is a genetic carrier of intestinal cobalamin malabsorption (border collie type).

Research Citation(s):

Fyfe JC, et al. An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs. (2013) Mol Genet Metab, 109(4):390-6.

Associated Breed(s):

Aussiedoodle, Australian Kelpie, Border Collie, Bordoodle, Koolie , Mixed Breed,

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