Cardiomyopathy, dilated
Phenotype Details
- Phene ID
- 326
- Name
- Cardiomyopathy, dilated
- Phene Name
- Bovine hereditary cardiomyopathy; Bovine dilated cardiomyopathy
- OMIA ID
- 162
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2011
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 288 | Cardiomyopathy, dilated | 38909993 | 1 | 18 | NC_037345.1:g.53152213G>A | NM_001245934.1:c.343C>T | NP_001232863.1:p.(Q115*) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein Friesian (Cattle) | 73 | 9913 | http://purl.obolibrary.org/obo/VBO_0000239 |
| Red Holstein, Switzerland (Cattle) | 243 | 9913 | http://purl.obolibrary.org/obo/VBO_0004501 |
| Swiss Fleckvieh (Cattle) | 1502 | 9913 | http://purl.obolibrary.org/obo/VBO_0000393 |
Summary
In a segregation analysis of data from a breeding herd, Dolf et al. (1998) provided convincing evidence of autosomal recessive inheritance.
Molecular Genetics
Owczarek-Lipska et al. (2011) showed that this disorder in Red Holstein cattle is due to a nonsense mutation (c.343C>T) in the gene for OPA3.