The detail information of Gangliosidosis, GM2, type I (B variant)
OMIA Basic Information

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

Associated Breeds
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
Associated Gene
Symbol Description Species Position Other Links
HEXA hexosaminidase A (alpha polypeptide) Canis lupus familiaris Chr30 : 36068396 - 36041265 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
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 .