Phenotypes
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...
Niemann-Pick disease, type C1
Woolley et al. (2020) report clinical signs, pathology, fibroblast cell culture analysis and identification of a likely disease causing mutation for Niemann-Pick type C disease in Australian Angus/Angus-cross calves.
Osteogenesis imperfecta, type II, COL1A1-related
Bourneuf et al. (2017): a de novo likely causal variant is COL1A1 p.1049_1050delinsS in Fleckvieh Petersen et al. (2019): "Whole-genome sequencing revealed the presence of a missense mutation in the alpha 1 chain of collagen Type I (COL1A1), for which both calves were heterozygous. The variant resulted in the substitution of a glycine residue with serine in the triple helical domain of the protein; in this region, glycine normally occupies eve...
Osteopetrosis, SLC4A2-related
No summary available.
Retinitis pigmentosa 1
Michot et al. (2016): "a one base pair insertion (Chr14: g.23995411_23995412insA) that affects the retinitis pigmentosa-1 gene (RP1) . . . [and] is predicted to cause a frameshift at codon 791 and to terminate the protein 13 amino acids later (p. R791KfsX13)".
Syndactyly — Mule foot disease; mulefoot; Haplotype HHM
Syndactyly has been reported in many breeds of cattle in many countries. Most of the documentation, however, concerns its occurrence in US Holsteins, where, as a result of the siring of more than 60,000 calves by a bull who was subsequently shown to be a carrier, the disorder attracted considerable attention (Anon., 1967). The possibility that artificial selection favouring heterozygotes may have contributed to the unacceptably high frequency ...
Waardenburg syndrome, type 2A — white coat colour
see also OMIA:000214-9913 Coat colour, white spotting; OMIA:001680-9913 Coat colour, dominant white with bilateral deafness; and OMIA:001931-9913 Depigmentation associated with microphthalmia for other phenes due to MITF variants in cattle.