OMIA 001461-9888 : Gangliosidosis, GM2, type I (B variant) in Muntiacus muntjak

In other species: American flamingo , dog , sheep , rabbit

Possibly relevant human trait(s) and/or gene(s) (MIM number): 272800

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Tay-Sachs disease

Reference


1999 Fox, J., Li, Y.T., Dawson, G., Alleman, A., Johnsrude, J., Schumacher, J., Homer, B. :
Naturally occurring G(M2) gangliosidosis in two Muntjak deer with pathological and biochemical features of human classical Tay-Sachs disease (type B G(M2) gangliosidosis) Acta Neuropathologica 97:57-62, 1999. Pubmed reference: 9930895.

Edit History


  • Created by Frank Nicholas on 20 Sep 2008