Multiple ocular defects, WFDC1-related
Phenotype Details
- Phene ID
- 4672
- Name
- Multiple ocular defects, WFDC1-related
- Phene Name
- Multiple ocular defects; MOD
- OMIA ID
- 2423
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2009
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 592 | Multiple ocular defects | 38903410 | 1 | 18 | g.10567100_10567101insC | c.321insC | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Japanese Black, Japan (Cattle) | 31 | 9913 | http://purl.obolibrary.org/obo/VBO_0004987 |
Molecular Genetics
Abbasi et al. (2009) reported that this disorder is due to a frameshift mutation resulting from the insertion of a single base in the gene for WFDC1.