OMIA 002318-9913 : Coat colour, dilution, FZD7-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 603410

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: 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: Montbeliarde.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FZD7 frizzled class receptor 7 Bos taurus 2 NC_037329.1 (90571270..90573476) FZD7 Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Montbeliarde coat colour, dilution (milca) FZD7 missense ARS-UCD1.2 2 g.90572569G>C c.1241G>C p.(G414A) CDS position in transcript ENSBTAT00000002946.6 based on ENSEMBL Variant Effect Predictor 2021 33686687

Reference


2021 Floriot, S., Duchesne, A., Grohs, C., Hozé, C., Deloche, M.C., Fayolle, G., Vilotte, J.L., Boichard, D., Fritz, S., Boussaha, M. :
A missense mutation in the FZD7 gene is associated with dilution of the red areas of the coat in Montbéliarde cattle. Anim Genet :, 2021. Pubmed reference: 33686687. DOI: 10.1111/age.13055.

Edit History


  • Created by Imke Tammen2 on 08 Apr 2021
  • Changed by Imke Tammen2 on 08 Apr 2021