Oculocutaneous hypopigmentation
Phenotype Details
- Phene ID
- 4020
- Name
- Oculocutaneous hypopigmentation
- Phene Name
- N/A
- OMIA ID
- 2101
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Molecular Genetics
As reported by Hollman et al. (2017), via a personal communication from Dr Jon Beever, "An amino acid exchange in the Ras-related Protein Rab-38 (RAB38) gene was identified as the disease causing mutation". A 2015 press release from the American Simmental Association (Anon., 2015) reported "Recently Dr. Beever has found the causative mutation and developed a diagnostic test for OH." It appears that the mutation arose originally in Angus cattle (Anon., 2015; https://www.angus.org/pub/OH/OHInfo.aspx).