Categories: Muscle phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 620246 (trait) , 114208 (gene)

Links to MONDO diseases: No links.

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.

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

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. For breeds in which a likely causal variant has been documented, see the variant table below

Associated gene: