Coat colour, dilution, FZD7-related
- Phene ID
- 4472
- Name
- Coat colour, dilution, FZD7-related
- Phene Name
- milca coat colour
- OMIA ID
- 2318
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2021
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1299 | coat colour, dilution (milca) | 388271891 | 0 | 2 | NC_037329.1:g.90572569G>C | NM_001144091.1:c.1241G>C | NP_001137563.1:p.(G414A) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Montbéliarde (Cattle) | 162 | 9913 | http://purl.obolibrary.org/obo/VBO_0000306 |
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."
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)."