Hypocatalasie
Gène : CAT
Mode de transmission : Autosomique
Mutation : Substitution, gène CAT ; c.979 G>A , p.(A327T)
Système médicale : Métabolique
Races : American Staffordshire Terrier/Amstaff, Basset Hound, Berger allemand, Bouledogue anglais, Bouledogue français, Bouvier australien, Caniche miniature, Carlin, Chihuahua, Foxhound américain, Foxhound anglais, Harrier, Labrador Retriever, Plott Hound, Rat Terrier, Treeing Walker Coonhound, Welsh Corgi Pembroke
Références :
Lien OMIA : [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]