Lethality, ITGA3-related
Phenotype Details
- Phene ID
- 4325
- Name
- Lethality, ITGA3-related
- Phene Name
- N/A
- OMIA ID
- 2261
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2017
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 1185 | de novo mutation in an AI sire | 388266684 | 1 | 19 | g.36586185G>A | N/A | p.(T252M) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Molecular Genetics
Bourneuf et al. (2017) detected ITGA3 g.37219021G>A; p.T252M as a de novo recessive potentially lethal mutation from an analysis of whole-genome-sequence of a Holstein AI bull. No information was provided on the descendants of this bull.