Mandibulofacial dysostosis
Phenotype Details
- Phene ID
- 4408
- Name
- Mandibulofacial dysostosis
- Phene Name
- N/A
- OMIA ID
- 2288
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2020
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1251 | Mandibulofacial dysostosis | 388275592 | 1 | 26 | g.14404993T>C | c.563T>G | p.(L188P) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Hereford (Cattle) | 17 | 9913 | http://purl.obolibrary.org/obo/VBO_0000232 |
Molecular Genetics
Sieck et al. (2020): "Whole-genome sequencing (WGS) of 20 animals [including 3 affected calves] led to the discovery of a variant (Chr26 g. 14404993T>C) in Exon 3 of CYP26C1 associated with MD. This missense mutation (p.L188P), is located in an α helix of the protein, which the identified amino acid substitution is predicted to break"