Phenotypes

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...

For information relating to Bos indicus cattle see: OMIA 001199-9915 : Coat colour, extension in Bos indicus

See also: OMIA:001737-9913 : Coat colour, white spotting, KIT-related in Bos taurus (taurine cattle)

Abbitt et al. (1991) reported that bovine beta-mannosidosis, a lysosomal storage disease, is caused by a deficiency of beta-mannosidase. Affected neonatal calves are unable to rise with intention tremors, hidebound skin, slightly domed calvaria, slight prognathism, and narrow palpebral fissures. Their postmortem findings included variable dilatation of the lateral cerebral ventricles, marked pallor and paucity of white matter of the cerebrum a...

Al-Khudhair et al. (2024) report a variant in the CACNA1S gene (rs3423414874) as likely causal variant for this condition.

Kunz et al. (2016) reported a likely causal mutation as "a missense mutation (p.S568N, c.G1703A; [Chr4: 49,878,773 bp, rs800397662]) in the PNPLA8 gene that encodes patatin-like phospholipase domain containing 8".

Cloning and sequencing of the bovine gene encoding molybdopterin cofactor sulfurase (MCSU, now called MOCOS) in normal and affected cattle, by Watanabe et al. (2000), revealed the causal mutation to be a 3bp deletion (c.769_771delTAC) of codon 257 (deleting Tyr) in the MOCOS gene (omia.variant:446). Murgiano et al. (2016) discovered a different mutation in the MUCOS gene as the likely cause in Tyrolean Grey cattle: "1 bp deletion in the molybd...