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Catalase Deficiency (Beagle Type)

Catalase Deficiency (Beagle Type)

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Test Overview:

Do not breed dogs affected with catalase deficiency (homozygous for the mutation) to prevent producing affected offspring. Avoid breeding two carriers of the mutation, as this results in a 25% chance of affected puppies per litter. Breed carriers only to genetically clear dogs (non-carriers) to prevent affected litters but maintain genetic diversity. Routine genetic testing is strongly recommended before breeding Beagles to identify carriers and affected individuals.

Category:

Metabolic - Associated with the enzymes and metabolic processes of cells

Gene:

CAT on Chromosome 18

Variant Detected:

c.979G>A

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:

Carriers can be bred to normal animals (N/hyp x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/hyp x N/hyp) nor of affected animals (hyp/hyp). Affected animals may have progressive gangrene of the mouth

Research Citation(s):

Donner J, Anderson H, Davison S, Hughes AM, Bouirmane J, Lindqvist J, Lytle KM, Ganesan B, Ottka C, Ruotanen P, Kaukonen M, Forman OP, Fretwell N, Cole CA, Lohi H. Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet. 2018 Apr 30;14(4):e1007361. doi: 10.1371/journal.pgen.1007361. [PubMed: 29708978] Nakamura K, Watanabe M, Takanaka K, Sasaki Y, Ikeda T. cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme. Int J Biochem Cell Biol. 2000 Nov-Dec;32(11-12):1183-93. [PubMed: 11137458] Nakamura K, Watanabe M, Takanaka K, Sasaki Y, Ikeda T. Purification and characterization of liver catalase in acatalasemic beagle dog: comparison with normal dog liver catalase. Int J Biochem Cell Biol. 2000 Jan;32(1):89-98. [PubMed: 10661897]

Associated Breed(s):

American Foxhound, Beagle, Mixed Breed,

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