Phenotypes

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...

Gutiérrez-Gil et al. (2007): c.64G>A Jolly et al. (2008): c.50_52delTTC Laible et al. (2021): "To better adapt dairy cattle to rapidly warming climates, we aimed to lighten their coat color by genome editing. ... Using gRNA/Cas9-mediated editing, we introduced a three bp deletion in the pre-melanosomal protein 17 gene (PMEL) proposed as causative variant for the semi-dominant color dilution phenotype observed in Galloway and Highland cattl...

Awasthi Mishra et al. (2017) reported a likely causal variant for this classic phene: "The belt-associated variant was a copy number variant (CNV) involving the quadruplication of a 6 kb non-coding sequence located approximately 16 kb upstream of the TWIST2 gene. Increased copy numbers at this CNV were strongly associated with the belt phenotype in a cohort of 333 cases and 1322 controls. We hypothesized that the CNV causes aberrant expression...

See also: 'OMIA:001009-9915 : Hemimelia, tibial in Bos indicus'

In a conference abstract, Marron and Beever (2012) reported the causal mutation of hypotrichosis in Belted Galloway cattle to be "an A1684T substitution in exon 9 of hephaestin-like 1 (HEPHL1) resulting in a premature stop codon (K562X)". They further noted that "Hephaestin-like 1 is responsible for copper ion transport. Copper deficiency has been shown to cause anemia, poor immune function, slower growth rates and discolored or poor hair coat...

This was one of the first inherited lysosomal storage disorders to be studied extensively in animals. The pioneering work was done by Jolly and colleagues at Massy University in New Zealand, who developed an enzyme assay that enabled carriers to be distinguished from homozygote normals with a high degree of accuracy (Jolly et al., 1973). More than twenty years later, following the cloning and characterisation of the human gene for alpha mannos...