Phenotypes

Charlier et al. (2016): nonsense (stop-gain) p.Arg64∗

Charlier et al. (2016): missense p.Tyr195Cys

Charlier et al. (2016): nonsense (stop-gain) p.Lys693∗

Charlier et al. (2016): splice-site c.826+1G>A

Charlier et al. (2016): nonsense (stop-gain) p.Arg527∗

In a remarkable indication of the power of whole-genome sequence analysis, Daetwyler et al. (2014) identified a causal mutation for this disorder in Holstein Friesian cattle as a missense mutation (g.32475732G>A [UMD3.1 reference sequence]; p.Gly960Arg, omia.variant:223) in the COL2A1 gene (which encodes the alpha-1 chain of type II collagen), by comparing the sequence of only two affected calves with sequence from bulls in the 1000-bull-ge...

Häfliger et al. (2021) "characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. ... Achromatopsia is a monogenic Mendelian disease characterized by the loss of cone photoreceptor function resulting in day-blindness, total color-blindness, and decreased central visual acuity."

Agerholm et al. (2016): "a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein."

Splicing variant 10 bp upstream of the intron1/exon 2 boundary (c211-10C>G) at position 79,814,520 (Bos taurus assembly: BosTau6/UMD3), leading to skipping of exon 2 (Sartelet et al., 2015)

Weber et al. (2026) investigated an inherited neuromuscular disorder in Brown Swiss cattle. Use of whole genome sequencing resulted in the identification of a "rare homozygous missense variant in LIPC (chr10:51715800G>C; NM_001035410.1:c.924C>G; p.Phe308Leu; omia.variant:1842) ... and in-silico predictions classified this variant as deleterious. Population-level genotyping of over 20.000 BS cattle revealed a variant allele frequency of 1...

Drögemüller et al. (2011) identified a likely causal variant in Tyrolean Grey cattle as the synonymous c.2229C>T SNP, which "is located within a putative exonic splice enhancer (ESE) and the variant allele leads to partial retention of the entire intron 19 and a premature stop codon in the aberrant MFN2 transcript. Thus we have identified a highly unusual splicing defect, where an exonic single base exchange leads to the retention of the pr...

Widmer et al. (2023): "A breed specific frameshift duplication in WNT10B (rs525007739; c.910dupC; p.Arg304ProfsTer14) ... was found to be associated with a 21.5-fold increased risk of brachygnathia inferior in homozygous [Brwon Swiss] carriers."

He et al. (2024) investigated a Holstein calf with complex congenital heart defects and carpus valgus: "Genetic analysis revealed a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile). The variant was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes, including both parents, indicating a de novo ori...

In a segregation analysis of data from a breeding herd, Dolf et al. (1998) provided convincing evidence of autosomal recessive inheritance.

Häfliger et al. (2022): "Whole-genome sequencing of the parent-offspring trio revealed a de novo mutation of ADAMTSL4 in this case. The heterozygous p.Arg776His missense variant affects a conserved residue of the ADAMTSL4 gene that encodes a secreted glycoprotein expressed in the lens throughout embryonic development." The authors were careful to note that "Given that this is a single case investigation and that we have no functional confirmat...