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

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