Categories: Pigmentation phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 603410 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: no

Key variant known: yes

Year key variant first reported: 2021

Species-specific name: milca coat colour

Species-specific description: 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 condition, a genome-wide homozygosity scan followed by whole-genome sequence data analysis was performed."

Mapping: Floriot et al. (2021): "A genome-wide homozygosity scan of 106 cases followed by haplotype analysis revealed a candidate region within BTA2 between positions 89.95 and 91.63 Mb."

Molecular basis: Floriot et al. (2021): "Analysis of whole-genome sequence data generated from milca animals identified a strong candidate variant within the coding region of the Frizzled-7 gene (FZD7). This gene encodes for a G-protein coupled receptor for Wnt signaling proteins. The variant induces a glycine to alanine substitution in the second extracellular loop, p.(Gly414Ala)."

Prevalence: Floriot et al. (2021): "genotyping data revealed that the mutant allele is restricted to the Montbeliarde breed, at a 3.7% frequency."

Breed: Montbéliarde (Cattle) (VBO_0000306).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene: