OMIA:001270-9913 : Convulsions and ataxia, familial in Bos taurus (taurine cattle) |
Categories: Nervous system phene , Behaviour / neurological phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601011 (gene) , 617106 (trait) , 108500 (trait) , 183086 (trait)
Links to MONDO diseases: No links.
Mendelian trait/disorder: no
Mode of inheritance: Autosomal dominant with incomplete penetrance
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Bovine familial convulsions and ataxia; cerebellar abiotropy
Molecular basis:
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."
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Breed:
Angus (Cattle) (VBO_0000104).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CACNA1A | calcium voltage-gated channel subunit alpha1 A | Bos taurus | 7 | NC_037334.1 (12144006..12397316) | CACNA1A | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1693 | Angus (Cattle) | Bovine familial convulsions and ataxia | CACNA1A | BFCA | nonsense (stop-gain) | Naturally occurring variant | ARS-UCD1.3 | 7 | NC_037334.1:g.12367906C>T | NM_001075129.1:c.5041C>T | NP_001068597.1:p.(R1681*) | 2024 | 38426585 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001270-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2024 | Reith, R.R., Beever, J.E., Paschal, J.C., Banta, J., Porter, B.F., Steffen, D.J., Hairgrove, T.B., Petersen, J.L. : |
| A de novo mutation in CACNA1A is associated with autosomal dominant bovine familial convulsions and ataxia in Angus cattle. Anim Genet 55:344-351, 2024. Pubmed reference: 38426585. DOI: 10.1111/age.13409. | |
| 2004 | Fournier, D., Keppie, N., Simko, E. : |
| Bovine familial convulsions and ataxia in Saskatchewan and Alberta. Can Vet J 45:845-8, 2004. Pubmed reference: 15532885. | |
| 1996 | Wallace, M.A., Scarratt, W.K., Crisman, M.V., Prater, D.A., Jortner, B.S. : |
| Familial convulsions and ataxia in an Aberdeen Angus calf Progress in Veterinary Neurology 7:145-148, 1996. | |
| 1968 | Barlow, R.M., Linklater, K.A., Young, G.B. : |
| Familial convulsions and ataxia in Angus calves Veterinary Record 83:60-65, 1968. | |
| Rafferty G.C. : | |
| Familial convulsions and ataxia in Angus calves Veterinary Record 83:134 only, 1968. |
Edit History
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Imke Tammen2 on 08 May 2024