Phenotypes
Haplotype with homozygous deficiency JH1 — Haplotype JH1
Sonstegard et al (2013) investigated the lethal Jersey haplotype, namely haplotype JH1 on chromosome BTA15 (see Mapping section). They first refined the haplotype "to a 15-marker window (15,162,470 to 15,949,175)" and then obtained whole-genome sequence from 11 bulls carrying this haplotype. Analysis of the sequence of these carriers in the candidate region revealed a "high-impact stop-gain SNP located at position 15,707,169 on BTA15. This C-t...
Increased muscular tonus, congenital
Illustrating the enormous power of genomic tools, Wiedemar et al. (2015) were able to identify a likely causal mutation for a previously unrecorded disease phenotype in just a single calf.
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...
Myeloencephalopathy, progressive degenerative, PNPLA8-related — Weaver syndrome; Haplotype BHW; bovine degenerative progressive myeloencephalopathy
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".
Slick hair
This single-locus autosomal dominant trait confers increased thermotolerance within the breeds in which it originated (Senepol and Carora; Olsen et al., 2003) and also within Hosteins, into which it was introgressed (Dikmen et al., 2008; 2014). In the USA, FDA determined in March 2022 that beef cattle with a genome edit to the PRLR gene and their offspring do not raise any safety concerns. "Based on the safety of consumption of meat from conve...
Sperm, short tail — Also known as stump sperm defect; one form of multiple morphological abnormalities of t...
FN thanks Hubert Pausch for advice on updating this entry.
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...