Coat colour, dominant white with bilateral deafness
Phenotype Details
- Phene ID
- 3321
- Name
- Coat colour, dominant white with bilateral deafness
- Phene Name
- Glass-eyed albino; German White Fleckvieh syndrome
- OMIA ID
- 1680
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2011
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| MITF | 407219 | 22 | microphthalmia-associated transcription factor |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 189 | Dominant white with bilateral deafness | 407219 | 1 | 22 | NC_037349.1:g.31628131C>A | NM_001001150.2:c.629G>T | NP_001001150.1:p.(R210I) |
| 837 | Glass-eyed albino | 407219 | 1 | 22 | g.31628127_31628129del | N/A | p.(R211del) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Fleckvieh-Simmental, Germany (Cattle) | 850 | 9913 | http://purl.obolibrary.org/obo/VBO_0002354 |
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Summary
Philipp et al. (2011) reported a "dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss . . . in Fleckvieh cattle"
Molecular Genetics
Philipp et al. (2011) reported the cause of this disorder in German Fleckvieh cattle as being a "missense mutation (c.629G>T, p.210R>I) was identified within exon 7 of the bovine MITF" gene. Bourneuf et al. (2017) discovered a de novo likely causal variant in the same gene in the Holstein breed, namely BTA22: g.31746506_31746508del; p.R211del (UMD3.1).