Congenital muscular dystonia 2
Phenotype Details
- Phene ID
- 2858
- Name
- Congenital muscular dystonia 2
- Phene Name
- N/A
- OMIA ID
- 1451
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2008
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 904 | Congenital muscular dystonia 2 | 38910929 | 1 | 29 | g.24366560A>G | c.809T>C | p.(L270P) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
Summary
In the words of Charlier et al. (2008), "All calves with CMD have episodes of generalized muscle contractures, but careful clinical examination suggested two distinct phenotypes (CMD1 and CMD2)."
Molecular Genetics
"A missense mutation (T809C) in exon 4, resulting in a L270P substitution in the third membrane-spanning domain of GlyT2" (a glycine transporter). (Charlier et al., 2008). The GlyT2 gene is now called SLC6A5 (and was previously called LOC528050 in NCBI). Gill et al. (2012) reported the same mutation in Belgian Blues from the UK.