Hypocatalasia

Gene: CAT

Transmission: Autosomal

Mutation: Substitution, CAT gene; c.979 G>A , p.(A327T)

Medical system: Metabolism

Breeds: American Cocker Spaniel, American Foxhound, American Staffordshire Terrier/Amstaff, Australian Cattle Dog, Basset Hound, Beagle, Chihuahua, English Bulldog, English Foxhound, French Bulldog, German Shepherd, Harrier, Labrador Retriever, Pembroke Welsh Corgi, Plott Hound, Poodle - Miniature (Dwarf), Pug, Rat Terrier, Treeing Walker Coonhound

References:

OMIA link: [1138-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Nakamura K, Watanabe M, Takanaka K, et al. (2000) cDNA cloning of mutant catalase in acatalasemic beagle dog: single nucleotide substitution leading to thermal-instability and enhanced proteolysis of mutant enzyme International Journal of Biochemistry & Cell Biology 32:1183-1193. [pubmed/11137458]