Phenotypes

Charlier et al. (2016): missense p.Tyr195Cys

Bovine hereditary zinc deficiency was first described in Friesian cattle (McPherson et al., 1964) and later in Fleckvieh (Schlerka and Baumgartner, 1976), Shorthorn (Vogt et al., 1988) and Angus cattle (Cook and Gill, 1993). A likely disease causing variant has been reported for Friesian cattle (Yuzbasiyan-Gurkan and Bartlett, 2006).

Much useful information on this disorder, including a video, is available from http://www.angus.org/pub/DD/DDInfo.aspx

Exome sequencing by Sasaki et al. (2016) within the candidate region (see Mapping section) revealed a likely causal missense variant: g.62382825G > A, p.Pro372Leu) in exon 10 of solute carrier family 12, member 1 (SLC12A1).

Maple Syrup Urine Disease (MSUD) is an autosomal recessive defect reported in Poll Hereford (PH) and Poll Shorthorn (PS) calves (Harper et al., 1986; Healy et al., 1992). The clinical, biochemical and pathological characters of the disease are identical in the two breeds of cattle, and are characterised by the rapid onset of progressive neurological disease, resulting in death within a few days of birth. The disease is caused by a deficiency o...

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...