Hairy
Phenotype Details
- Phene ID
- 3785
- Name
- Hairy
- Phene Name
- slick
- OMIA ID
- 441
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2014
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 216 | Hairy | 388160897 | 0 | 23 | NC_037350.1:g.35332871A>C | NM_173953.2:c.661A>C | NP_776378.2:p.(C221G) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Jersey (Cattle) | 46 | 9913 | http://purl.obolibrary.org/obo/VBO_0000250 |
Molecular Genetics
By sequencing the most likely functional positional candidate gene from the mapped region (see Mapping section), Littlejohn et al. (2014) identified a causal mutation as a "nonsynonymous SNP in exon 5 [that] encodes a p.Cys221Gly substitution highly conserved across vertebrates and other structurally related hormones, disrupting one of three disulphide bonds defining the three-dimensional (3D) structure of mature prolactin hormone" (ss1067289409; chr23:35105313A>C)