OMIA:000689-9796 : Hyperekplexia, GLRA1-related in Equus caballus (horse) |
In other species: dog , taurine cattle
Categories: Nervous system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 149400 (trait) , 138491 (gene)
Links to relevant human diseases in MONDO:
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: no
Cross-species summary: renamed from 'myoclonus' to 'hyperekplexia, GLRA1-related' [27/5/2023]
Species-specific name: inherited myoclonus
Species-specific description: Gundlach et al. (1993) report the "occurrence of ... [a] stimulus-induced myoclonus in individual, pure-bred Peruvian Paso horses and an associated, specific deficiency in the density of [3H]strychnine binding to inhibitory glycine receptors sites in spinal cord of these animals." The authors suggest that the disease is similar to inherited myoclonus in Poll Hereford calves (see OMIA:000689-9913 : Hyperekplexia, GLRA1-related in Bos taurus). However, the underlying molecular genetic cause in horses has not been identified, and the disease in horses and may not be associated with variants in the GLRA1 gene.
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:000689-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 1993 | Gundlach, A.L., Kortz, G., Burazin, T.C.D., Madigan, J., Higgins, R.J. : |
| Deficit of inhibitory glycine receptors in spinal cord from Peruvian Pasos - Evidence for an equine form of inherited myoclonus. Brain Res 628:263-70, 1993. Pubmed reference: 8313155. DOI: 10.1016/0006-8993(93)90963-n. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 27 May 2023