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

Considered a defect: 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-UCD1.2 16 g.79613592C>T c.3853G>A 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.

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  • Created by Imke Tammen2 on 23 Jan 2024
  • Changed by Imke Tammen2 on 23 Jan 2024
  • Changed by Imke Tammen2 on 24 Jan 2024