Phenotypes

Also known as Curly Calf Syndrome

Complex vertebral malformation is an inherited syndrome in Holstein-Friesian cattle. CVM has been reported in aborted, premature born, stillborn and neonatal calves. Affected calves have a reduced weight, a misshapen backbone and tendon contractions in the legs. Several other malformations including heart malformations are associated with this syndrome. A DNA test is available in Denmark and the Netherlands. [Imke Tammen: 26 Jan 2002] From a s...

By whole-genome sequencing of a trio of affected offspring, sire and dam, Jacinto et al. (2022) "identified two heterozygous private protein-changing variants present exclusively in the genome of the affected calf and absent in both parental genomes as well as in 5365 controls . . . . Only one of these variants was in a putative candidate gene for the observed phenotype. This heterozygous variant at chr10:84751870G>A (NM_001101951.1: c.416C...

Jacinto et al. (2023): "A trio whole-genome sequencing approach [of an affected 5 month old Wagyu calf and its parents] identified a deleterious homozygous missense variant in DGKG (p.Thr721Ile). The allele frequency in 209 genotyped Wagyu was 7.2%."

By cloning and sequencing a very likely comparative candidate gene (based on the same disorder in humans), Shuster et al. (1992; PNAS) showed that this disorder in Holstein cattle is due to a missense mutation (c.383A>G) in the CD18 gene, now known as ITGB2. This mutation was confirmed in Daetwyler et al. (2014)'s analysis of whole-genome sequence data from 234 cattle, including key ancestors of the Holstein-Friesian, Fleckvieh and Jersey b...

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...

Floriot et al. (2026): "Genetic analysis identified a nonsense variant in the epidermal growth factor receptor (EGFR) gene, XP_002696936:p.Val876Ter, as likely responsible ... ."

Besnard et al. (2023) monitored “sire-family calf mortality within the French and Walloon Holstein populations, and ... [used] this information to detect genetic defects that might have been overlooked by lack of specific symptoms. … After outlining the 5 worst bulls per category, [the authors] ... paid particular attention to the bulls Mo and Pa, because they were half-brothers. Using a battery of approaches, including necropsies, karyotyping...