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...
OMIA ID:2318Inheritance: 5Characterised: YesYear: 2021
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.
OMIA ID:1836Inheritance: Häfliger et al. (2022) reported that "no single homozygous carrier of the . ....Characterised: YesYear: 2022
Sieck et al. (2020): "Whole-genome sequencing (WGS) of 20 animals [including 3 affected calves] led to the discovery of a variant (Chr26 g. 14404993T>C) in Exon 3 of CYP26C1 associated with MD. This missense mutation (p.L188P), is located in an α helix of the protein, which the identified amino acid substitution is predicted to break"
OMIA ID:2288Inheritance: 5Characterised: YesYear: 2020
