Phenotypes
Acrodermatitis enteropathica — Lethal trait A46; bovine hereditary zinc deficiency, hereditary parakeratosis, heredita...
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).
Cardiomyopathy and woolly haircoat syndrome
No summary available.
Chondrodysplasia, EVC2-related — bovine chondrodysplastic dwarfism, bcd
Also known as Ellis-van Creveld Syndrome
Coat colour, dilution, FZD7-related — milca coat colour
Floriot et al. (2021) "A total of 106 affected animals were reported to the French National Observatory for Bovine Abnormalities (ONAB, https://www.onab.fr/, Grohs et al. 2016). The first case reported to the ONAB was a cow born in 2008. At birth, the affected animals, which are otherwise healthy, present a dilution of the pigmented, normally red, areas of the coat .... To search for the causative genetic factors responsible for this genetic co...
Coat colour, roan
By cloning and sequencing a very likely comparative positional candidate gene (see the Genetic mapping section above), Seitz et al. (1999) reported that a missense mutation at 654 bp (amino acid 193, Ala>Asp) in the mast cell growth factor (MGF) locus is responsible for the roan phenotype in Belgian Blue and Shorthorn cattle (Mohammad Shariflou. The MGF gene is now called KITLG (10/11/2006; FN 15/9/2012)
Dwarfism, PRKG2-related
No summary available.
Haplotype with homozygous deficiency HH13, KIR2DS1-related
Based on strong evidence obtained in Swiss Holsteins, Häfliger et al (2022) proposed KIR2DS1:p.Gln159* as the likely causal variant for haplotype HH13.
Haplotype with homozygous deficiency HH3, SMC2-related — Haplotype HH3
Using inferred haplotypes from the 1000-bull-genomes project, Hayes et al. (2013) announced the discovery of the likely HH3 causal mutation. Using exome capture and next-gen sequencing, McClure et al. (2014) confirmed and validated Hayes et al. (2013)'s causal mutation mutation as "a non-synonymous SNP (T/C) within exon 24 of the Structural Maintenance of Chromosomes 2 (SMC2) on Chromosome 8 at position 95,410,507 (UMD3.1). This polymorphism ...
Hypohidrotic ectodermal dysplasia, X-linked, EDA-related — Congenital hypotrichosis and anodontia defect; Ectodermal dysplasia; X-linked hypohidro...
Because of the obvious homology of this disorder with the homologous human disorder, Drögemüller et al. (2001) proposed that the bovine disorder be called by the name of its human homologue, which is now done in this catalogue. The earlier names are listed here as species-specific names [Frank Nicholas 20 June 2002].
Yellow fat
No summary available.