OMIA:002846-9796 : Spinocerebellar ataxia, juvenile in Equus caballus (horse) |
Categories: Nervous system phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: unknown
Mode of inheritance: Probably autosomal recessive
Considered a defect: yes
Species-specific name: Equine Juvenile Spinocerebellar Ataxia (EJSCA)
Species-specific description: Willis et al. (2024) report a novel lethal spinocerebellar ataxia in 12 related young Quarter Horses "that is etiologically distinct from other clinically similar neurological disorders."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breed:
Quarter Horse (Horse) (VBO_0001057).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002846-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Willis, A.T., Dahlgren, A.R., Woolard, K.D., Ghosh, S., Donnelly, C.G., de la Concha-Bermejillo, A., Pacheco, A., Watson, K.D., Berryhill, E., Aleman, M., Wensley, F., Humphreys, S., Whitehead, A.E., Goldsmith, D., Chesen, B., Ragsdale, J., Tompkins, J.E., Nash, R., Plunkett, A.H., Qualls, H.J., Rodriguez, K., Hochanadel, D., Miller, A.D., Finno, C.J. : |
| Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America. J Vet Intern Med , 2024. Pubmed reference: 38669583. DOI: 10.1111/jvim.17049. |
Edit History
- Created by Imke Tammen2 on 28 Apr 2024