OMIA:000715-9986 : Neuroaxonal dystrophy, generic in Oryctolagus cuniculus (rabbit)

In other species: dog , domestic cat , horse , sheep

Categories: Nervous system phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 608507 (gene)

Links to MONDO diseases: No links.

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2011). OMIA:000715-9986: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

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