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:

• MONDO:0007868: hyperekplexia 1

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: Renamed from 'myoclonus' to 'hyperekplexia, GLRA1-related' [27/5/2023]
See also entries for 'OMIA:001594 : Hyperekplexia (Startle disease), SLC6A5-related'

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.

Breed: Peruvian Paso (Horse) (VBO_0001042).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).