Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2013
Species-specific name: Gangliosidosis, GM2, type I
Species-specific symbol: GM2
More detail information can see in
iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
---|---|---|---|---|---|---|
CB137 | Japanese Chin(Japanese Spaniel) | 20.3-27.9 cm | 3.2-5 kg | Japan |
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
HEXA | hexosaminidase A (alpha polypeptide) | Canis lupus familiaris | Chr30 : 36068396 - 36041265 | Homologene, Ensembl, NCBI gene |
2016 |
Lawson,C.A.,Martin,D.R.: :
Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet 9:111-20, 2016. Pubmed reference: 27499644 . DOI: 10.2147/TACG.S85354 . |
2013 |
Freeman,A.C.,Platt,S.R.,Vandenberg,M.,Holmes,S.,Kent,M.,Rech,R.,Howerth,E.,Mishra,S.,O'Brien,D.P.,Wenger,D.: :
GM2 gangliosidosis (B variant) in two Japanese Chins: clinical, magnetic resonance imaging and pathological characteristics. J Vet Intern Med 27:771-6, 2013. Pubmed reference: 23731274 . DOI: 10.1111/jvim.12118 . |
2013 |
Sanders,D.N.,Zeng,R.,Wenger,D.A.,Johnson,G.S.,Johnson,G.C.,Decker,J.E.,Katz,M.L.,Platt,S.R.,O'Brien,D.P.: :
GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease. Mol Genet Metab 108:70-5, 2013. Pubmed reference: 23266199 . DOI: 10.1016/j.ymgme.2012.11.008 . |
1985 |
Cummings,JF.,Wood,PA.,Walkley,SU.,deLahunta,A.,DeForest,ME.: :
GM2 gangliosidosis in a Japanese spaniel. Acta Neuropathol (Berl) 67:247-53, 1985. Pubmed reference: 2931941 . |