Convulsions and ataxia, CACNA1A-related
Phenotype Details
- Phene ID
- 2350
- Name
- Convulsions and ataxia, CACNA1A-related
- Phene Name
- Bovine familial convulsions and ataxia; cerebellar abiotropy
- OMIA ID
- 1270
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2024
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1693 | Bovine familial convulsions and ataxia | 398298896 | 1 | 7 | NC_037334.1:g.12367906C>T | NM_001075129.1:c.5041C>T | NP_001068597.1:p.(R1681*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
Molecular Genetics
Reith et al. (2024): "Whole-genome sequencing was performed on the [Angus] sire, six affected and seven unaffected
paternal half-sibling calves and combined with data from 135 unrelated controls. The sire and five of the six affected calves were heterozygous for a nonsense variant (Chr7 g.12367906C>T, c.5073C>T, p.Arg1681*) in CACNA1A. The other affected calves (N = 8) were heterozygous for the variant but it was absent in the other unaffected calves (N = 7) and parents of the sire."