OMIA 000715-9986 : Neuroaxonal dystrophy, generic in Oryctolagus cuniculus |
In other species:
dog
,
domestic cat
,
horse
,
sheep
Possibly relevant human trait(s) and/or gene(s) (MIM number):
608507 (gene)
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
no
Cross-species summary:
Progressive ataxia, hypermetria, proprioceptive deficits, head incoordination and tremors.
Reference
1992 | Giannini, C., Monaco, S., Kirschfink, M., Rother, KO., Lorbacher de Ruiz, H., Nardelli, E., Bonetti, B., Salviati, A., Zanette, GP., Rizzuto, N. : | |
Inherited neuroaxonal dystrophy in C6 deficient rabbits. J Neuropathol Exp Neurol 51:514-22, 1992. Pubmed reference: 1517772. |
Edit History
- Created by Frank Nicholas on 27 May 2011