Phenotypes
Achondrogenesis, type II — Holstein bull-dog dwarfism
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...
Cardiomyopathy and woolly haircoat syndrome
No summary available.
Epidermolysis bullosa, dystrophic
In a sign of the times, Menoud et al. (2012) needed only three affected Rotes Höhenvieh calves to identify the causative mutation of this disorder as being a "SNP in the bovine COL7A1 exon 49 (c.4756C>T) . . . which causes a premature stop codon which leads to a truncated protein representing a complete loss of COL7A1 function (p.R1586*)" Independently of the above discovery, Pausch et al. (2016) discovered exactly the same likely causal va...
Haplotype with homozygous deficiency HH13, KIR2DS1-related
Based on strong evidence obtained in Swiss Holsteins, Häfliger et al (2022) proposed KIR2DS1:p.Gln159* as the likely causal variant for haplotype HH13.
Hypohidrotic ectodermal dysplasia, X-linked, EDA-related — Congenital hypotrichosis and anodontia defect; Ectodermal dysplasia; X-linked hypohidro...
Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].
Ichthyosis, ABCA12-related
In the words of Charlier et al. (2008): "a missense mutation in exon 39 (A5804G) resulting in an H1935R substitution in the fourth extracellular loop". The His (normal) form of the peptide is conserved in all vertebrates sequenced to date. (FN 080330) Whole-genome sequencing of the affected Shorthorn calf described by O'Rourke et al. (2017), and subsequent checking for deleterious variants in functional candidate genes, enabled Woolley et al. ...
Muscular hypertrophy (double muscling) — Double muscling; “culón”; horse rump
The double-muscle trait in cattle is characterised by an increase in muscle mass of approx 20%, resulting in substantially higher meat yield, a higher proportion of expensive cuts of meat, and lean and very tender meat, for which a substantial premium is paid. The trait is autosomal recessive, and the locus has been given the symbol mh. It occurs at such a high frequency in Piedmontese and Belgian Blue cattle that it is characteristic of these...