Scurs, type 2
Phenotype Details
- Phene ID
- 3121
- Name
- Scurs, type 2
- Phene Name
- N/A
- OMIA ID
- 1593
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2011
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 594 | Scurs, type 2 | 39044773 | 0 | 4 | NC_037331.1:g.27819577_27819586dup | NM_001191145.1:c.148_157dup | NP_001178074.1:p.(A56Rfs*87) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Charolais (Cattle) | 19 | 9913 | http://purl.obolibrary.org/obo/VBO_0000177 |
Molecular Genetics
By sequencing a strong positional candidate gene, namely TWIST1, Capitan et al. (2011) identified a small duplication (c.148_157dup (p.A56RfsX87)) that inactivates the gene. This frameshift mutation segregates perfectly with type 2 scurs.