Myopathy of the diaphragmatic muscles
Phenotype Details
- Phene ID
- 2585
- Name
- Myopathy of the diaphragmatic muscles
- Phene Name
- N/A
- OMIA ID
- 1319
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2003
Linked Genes
| Symbol | Gene ID | Chromosome | Description |
|---|---|---|---|
| HSPA1A | 282254 | 23 | heat shock 70kDa protein 1A |
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 919 | Myopathy of the diaphragmatic muscles | 282254 | 1 | 23 | N/A | N/A | N/A |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
Molecular Genetics
From a BAC contig encompassing the candidate region of the bovine MHC (see Mapping section above), Sugimoto at al. (2003) determined that this disorder in Holstein-Friesian cattle is due to the deletion of one of two HSP70 (heat-shock protein) genes in the bovine major histocompatibility complex.