In other species: domestic cat , lion , tiger , indicine cattle (zebu) , bobcat

Categories: Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 207950 (trait) , 118420 (trait) , 617372 (gene) , 609226 (gene) , 600112 (gene)

Mendelian trait/disorder: unknown

Disease-related: yes

Species-specific name: Congenital syndromic Chiari-like malformation

Species-specific symbol: CSCM

Mapping: Jacinto et al. (2024): "Sequencing-based genome-wide association study of the 13 Holstein calves with CSCM [congenital syndromic Chiari-like malformation] and 166 controls revealed no significantly associated genome region. Assuming a single Holstein breed-specific recessive allele, no region of shared homozygosity was detected suggesting heterogeneity."

Molecular basis: Jacinto et al. (2024) "collected a series of 14 CSCM[congenital syndromic Chiari-like malformation]-affected Holstein calves (13 purebred, one Red Danish Dairy F1 cross) and performed whole-genome sequencing (WGS). ... filtering for protein-changing variants that were only homozygous in the genomes of the individual cases allowed the identification of two missense variants affecting different genes, SHC4 in case 4 in group 1 and WDR45B in case 13 in group 3. ... Filtering for heterozygous private protein-changing variants identified one DYNC1H1 frameshift variant as a candidate causal dominant acting allele in case 12 in group 3. Finally, the presence of larger structural DNA variants and chromosomal abnormalities was investigated in all cases. Depth of coverage analysis revealed two different partial monosomies of chromosome 2 segments in cases 1 and 7 in group 1 and a trisomy of chromosome 12 in the WDR45B homozygous case 13 in group 3."

Breeds: Angus (Cattle) (VBO_0000104), Braford (Cattle) (VBO_0000158), Brown Swiss (Cattle) (VBO_0000166), Charolais (Cattle) (VBO_0000177), Hereford (Cattle) (VBO_0000232), Holstein Friesian (Cattle) (VBO_0000239), Japanese Black, Japan (Cattle) (VBO_0004987), Shorthorn (Cattle) (VBO_0000375), Simmental (Cattle) (VBO_0000380).
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).