OMIA 001461-9888 : Gangliosidosis, GM2, type I (B variant) in Muntiacus muntjak |
In other species:
American flamingo
,
dog
,
pig
,
sheep
,
rabbit
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
272800 (trait)
,
606869 (gene)
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