Phenotypes
Caprine-like generalized hypoplasia syndrome — Syndrome d'Hypoplasie Généralisée Capréoliforme. Also known as Seckel-like syndrome
Nonsense mutation: c.493C>T "at position 65,369,074 in [exon 4 of] the CEP250 gene" "that encodes the centrosomal protein C-Nap1". The mutation "solely affects centrosome cohesion". "Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype". Results and quotations from Floriot et al. (2015).
Coat colour, dominant red — Also known as Variant Red, Holstein dominant red; Haplotype HDR
By comparing whole-genome sequence of a small number of Holsteins having the trait, with sequence data from hundreds of control animals, Capitan et al. (2014) confirmed the mapping results of Lawlor et al. (2014) and identified the causal mutation as a de novo variant BTA3 g.C9479761T, which corresponds to a missense mutation p.R160C in the COPA gene that encodes coatomer protein complex, subunit alpha. By whole-genome sequencing of a Dominant...
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 HH7, CENPU related
Hozé et al. (2020) reported a likely causal variant for the new HH7 haplotype as being "a 4-bp deletion (Chr27 g.14168130_14168133delTACT) that affects a highly conserved region among mammals".
Maple syrup urine disease, BCKDHA-related
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...
Skeletal-cardio-enteric dysplasia, MAP2K2-related — skeletal-cardio-enteric dysplasia
Jacinto et al. (2021) characterized "the pathological phenotype of a Romagnola stillborn calf with skeletal-cardio-enteric dysplasia and ... [identified] a genetic cause by whole-genome sequencing (WGS)."
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...
Vertebral and spinal dysplasia
Kromik et al. (2015; Genetics): c.196A>G; p.66Lys>Glu; NM_001192985.1