Spinal dysmyelination
Phenotype Details
- Phene ID
- 2219
- Name
- Spinal dysmyelination
- Phene Name
- Bovine spinal dysmyelination; Haplotype BHD
- OMIA ID
- 1247
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2010
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 206 | Spinal dysmyelination | 38909532 | 1 | 11 | g.14742184G>A | c.1964G>A | p.(R560Q) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Brown Swiss (Cattle) | 59 | 9913 | http://purl.obolibrary.org/obo/VBO_0000166 |
| Original Swiss Brown (Cattle) | 1500 | 9913 | http://purl.obolibrary.org/obo/VBO_0000328 |
Molecular Genetics
Thomsen et al. (2010) showed that this disorder is due to a missense mutation (R560Q) at a site that is invariant from insects to mammals in the gene encoding spastin (SPAST or SPG4). In their table of reduced-fertility haplotypes, Cole et al. (2014) list this SPAST mutation as being the causal mutation for haplotype BHD.