OMIA:002819-9913 : Muscle weakness, CACNA1S-related in Bos taurus (taurine cattle) |
Categories: Muscle phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 620246 (trait) , 114208 (gene)
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific name: Recumbency
Species-specific symbol: HMW
Inheritance: likely to be autosomal recessive with incomplete penetrance
Mapping: Dechow et al. (2022): "Genome-wide association, homozygosity screening, and a parental based transmission disequilibrium test were conducted in PLINK. A genomic region on the end of chromosome 16 that contained 78 markers based on a recessive inheritance model and that spanned 5.1 million bp was considered the most probable region for a genetic defect; the region was narrowed to 2.1 million bp following homozygosity screening and the transmission disequilibrium test with all affected calves homozygous in the candidate region and 1 homozygous control."
Molecular basis: Al-Khudhair et al. (2024) report a variant in the CACNA1S gene (rs3423414874) as likely causal variant for this condition.
Clinical features: Dechow et al. (2022): "Thirty-four Holstein calves from multiple farms were found recumbent during the neonatal period with no detectable neurologic, infectious, or metabolic abnormalities. Most calves did not survive beyond 6 wk of age."
Breed:
Holstein Friesian (Cattle) (VBO_0000239).
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).
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
CACNA1S | calcium voltage-gated channel subunit alpha1 S | Bos taurus | 16 | NC_037343.1 (79658538..79601791) | CACNA1S | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
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 | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1660 | Holstein Friesian (Cattle) | Muscle weakness | CACNA1S | missense | Naturally occurring variant | ARS-UCD1.3 | 16 | NC_037343.1:g.79613592C>T | XM_024976574.1:c.3853G>A | XP_024832342.1:p.G1285S | ENSBTAT00000065901.3; ENSBTAP00000054797.3 | rs3423414874 | 2024 | 38246543 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:002819-9913: 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 | Al-Khudhair, A., VanRaden, P.M., Null, D.J., Neupane, M., McClure, M.C., Dechow, C.D. : |
New mutation within a common haplotype is associated with calf muscle weakness in Holsteins. J Dairy Sci 107:3768-3779, 2024. Pubmed reference: 38246543. DOI: 10.3168/jds.2023-24121. | |
2022 | Dechow, C.D., Frye, E., Maunsell, F.P. : |
Identification of a putative haplotype associated with recumbency in Holstein calves. JDS Commun 3:412-415, 2022. Pubmed reference: 36465504. DOI: 10.3168/jdsc.2022-0224. |
Edit History
- Created by Imke Tammen2 on 23 Jan 2024
- Changed by Imke Tammen2 on 23 Jan 2024
- Changed by Imke Tammen2 on 24 Jan 2024