Osteopetrosis, SLC4A2-related
Phenotype Details
- Phene ID
- 4731
- Name
- Osteopetrosis, SLC4A2-related
- Phene Name
- N/A
- OMIA ID
- 2443
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2010
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 647 | Osteopetrosis | 99218598 | 1 | 4 | g.113638011_113640784del | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Angus (Cattle) | 44 | 9913 | http://purl.obolibrary.org/obo/VBO_0000104 |
| Hereford (Cattle) | 17 | 9913 | http://purl.obolibrary.org/obo/VBO_0000232 |
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Inheritance
O'Toole et al. (2012): "Six affected aborted or stillborn calves were homozygous for the recently characterized deletion mutation in SLC4A2. Four affected calves were heterozygous for the SLC4A2 mutation and survived 1 to 7 days after birth."