Lethality, CSNK1G2-related
Phenotype Details
- Phene ID
- 4326
- Name
- Lethality, CSNK1G2-related
- Phene Name
- N/A
- OMIA ID
- 2262
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1186 | de novo mutation in an AI sire | 388265599 | 1 | 7 | g.44265842G>C | N/A | p.(D164H) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Montbéliarde (Cattle) | 162 | 9913 | http://purl.obolibrary.org/obo/VBO_0000306 |
Molecular Genetics
Bourneuf et al. (2017) detected Chr7 CSNK1G2 g.45885860G>C; p.D164H as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Montbéliarde AI bull. No information was provided on the descendants of this bull.