Lethality, FAM189A1-related
Phenotype Details
- Phene ID
- 4323
- Name
- Lethality, FAM189A1-related
- Phene Name
- N/A
- OMIA ID
- 2259
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1183 | de novo mutation in an AI sire | 389079146 | 1 | 21 | g.28112913T>C | N/A | p.(N192S) |
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 FAM189A1 g.28644665T>C; p.N192S 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.