Vertebral and spinal dysplasia
Phenotype Details
- Phene ID
- 3756
- Name
- Vertebral and spinal dysplasia
- Phene Name
- N/A
- OMIA ID
- 1951
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2015
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 213 | Vertebral and spinal dysplasia | 388271925 | 1 | 9 | NC_037336.1:g.101160274T>C | NM_001192985.1:c.196A>G | NP_001179914.1:p.(K66E) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Holstein (black and white) (Cattle) | 39 | 9913 | http://purl.obolibrary.org/obo/VBO_0000237 |
Inheritance
Kromi et al. (2015; Vet. J.) provided evidence of dominant inheritance with incomplete penetrance.
Molecular Genetics
Kromik et al. (2015; Genetics): c.196A>G; p.66Lys>Glu; NM_001192985.1
Genetic Test
Kromik et al. (2015; Vet. J.) report that a DNA test, based on the causal mutation (see above), is available.