Phenotypes
Coat colour, white spotting, KIT-related — Hereford pattern or white headed, as well as spotting
Fontanesi et al. (2010): "[V]ariation in the white spotting in several cattle breeds is largely influenced by the multiple allelic series at the S locus, which includes at least four alleles (Olson 1999): SH (Hereford pattern), SP (Pinzgauer pattern or lineback), S+ (non-spotted) and s (spotting pattern). The SH allele gives white face, belly, feet and tail, often with a white stripe over the shoulder when homozygous. The SP allele gives pigm...
Dwarfism, ACAN-related — Bulldog calf; chondrodysplasia
Information about ACAN related dwarfism in Bos indicus cattle was previously listed here and was moved to 'OMIA:001271-9915 : Dwarfism, ACAN-related in Bos indicus' [19/06/2023]
Glycogen storage disease V — Myophosphorylase deficiency
The first occurrence of this disorder in any domestic species was reported by Angelos et al. (1995), in Charolais cattle.
Haplotype with homozygous deficiency HH2, IFT80-related — Haplotype HH2
In an extensive study involving exome capture and next-gen sequencing, McClure et al. (2014) were not able to discover any potentially causal variant for haplotype HH2. Yang et al. (2021): "Short- and long-read WGS was performed on four carriers and four non-carriers of HH2 to screen for variants in concordance with HH2 haplotype status.Sequence variation analysis revealed five putative functional variants of protein-coding genes, including a...
Male subfertility, EML5-related
Nogueira et al. (2022) "A rare SNP, predicted to be deleterious was discovered within a conserved WD40 domain repeat-encoding region ... of the bovine autosomal ... EML5 gene ... in an Angus bull ... with low fertility." The authors "demonstrate that this mutant allele is present in many breeds world-wide."
Polled/Horns — Haplotype BHP; Haplotype HHP; Haplotype JHP
The absence of horns (polledness) is of substantial benefit in cattle, from an economic and welfare point of view: bruising due to horns is eliminated, and the stress associated with de-horning is avoided. (Information complied by Ulrika Tjälldén and Vanja Kinch, Uppsala, March 1998). In addition to naturally occurring variants for this trait, variants have been created artificially: Genetically-modifed organism; GMO.
Thrombopathia, RASGRP2-related — Simmental hereditary thrombopathy; bleeding disorder;
On the strength of a clear candidate gene in which mutations cause the same disorder in dogs (OMIA 001003-9615), Boudreaux et al. (2007) reported that this disorder in a Simmental calf is due to a missense mutation (c.701T>C) in the CalDAG-GEFI gene which is now called RASGRP2. Jansen et al. (2013) reported that "Sanger sequencing confirmed that all thrombopathic animals are homozygous for the [same] pertinent amino acid exchange (c.701T &g...