OMIA:002318-9913 : Coat colour, dilution, FZD7-related in Bos taurus (taurine cattle)
Categories: Pigmentation phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 603410 (gene)
Links to MONDO diseases: No links.
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)."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Prevalence: Floriot et al. (2021): "genotyping data revealed that the mutant allele is restricted to the Montbeliarde breed, at a 3.7% frequency."
Montbéliarde (Cattle) (VBO_0000306).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1299||Montbéliarde (Cattle)||coat colour, dilution (milca)||FZD7||missense||Naturally occurring variant||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|
Cite this entry
|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 52:351-355, 2021. Pubmed reference: 33686687. DOI: 10.1111/age.13055.|
- Created by Imke Tammen2 on 08 Apr 2021
- Changed by Imke Tammen2 on 08 Apr 2021