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Cobalamin Malabsorption (Beagle Type)

$50

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Test Overview:

Test breeding for the CUBN mutation. Do not breed carrier (heterozygous) to carrier to prevent affected offspring. Breed carriers only to clear (non-carrier) dogs. Dogs affected with two copies of the mutation should never be bred. Use test results and pedigree information to gradually reduce mutation prevalence in Beagles while maintaining genetic diversity.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

Cubilin (CUBN) on chromosome 2

Variant Detected:

c.786delC

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 (beagle Type).

Research Citation(s):

Drogemuller M, Jagannathan V, Howard J, Bruggmann R, Drogemuller C, Ruetten M, Leeb T, Kook PH. A frameshift mutation in the cubilin gene (CUBN) in Beagles with Imerslund–Grasbeck syndrome (selective cobalamin malabsorption) [PubMed: 24164695] Fyfe JC, Hemker SL, Venta PJ, Stebbing B, Giger U. Selective Intestinal Cobalamin Malabsorption with Proteinuria (Imerslund-Grasbeck Syndrome) in Juvenile Beagles. J Vet Intern Med. 2014 Mar-Apr;28(2):356-62. doi: 10.1111/jvim.12284. [PubMed: 24433284] Kook PH, Drogemuller M, Leeb T, Howard J, Ruetten M. Degenerative Liver Disease in Young Beagles with Hereditary Cobalamin Malabsorption Because of a Mutation in the Cubilin Gene. J Vet Intern Med. 2014 Mar-Apr;28(2):666-71. doi: 10.1111/jvim.12295. [PubMed: 24467303]

Associated Breed(s):

Beagle, Mixed Breed,
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