OMIA 000698-9796 : Myotonia in Equus caballus |
In other species:
goat
,
dog
,
sheep
,
domestic cat
,
cattle
,
water buffalo
Possibly relevant human trait(s) and/or gene(s) (MIM number):
160800
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2012
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| CLCN1 | chloride channel, voltage-sensitive 1 | Equus caballus | 4 | NC_009147.3 (96497829..96527024) | CLCN1 | Homologene, Ensembl, NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
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| Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| New Forest Pony | Myotonia | CLCN1 | missense | c.1775A>C | p.D592A | 2012 | 22197188 |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2012 | Wijnberg, I.D., Owczarek-Lipska, M., Sacchetto, R., Mascarello, F., Pascoli, F., Grünberg, W., van der Kolk, J.H., Drögemüller, C. : | |
| A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony. Neuromuscul Disord 22:361-7, 2012. Pubmed reference: 22197188. DOI: 10.1016/j.nmd.2011.10.001. | ||
| 1988 | Reed, S.M., Hegreberg, G.A., Bayly, W.M., Brown, C.M., Paradis, M.R., Clemmons, R.M. : | |
| Progressive myotonia in foals resembling human dystrophia myotonica. Muscle Nerve 11:291-6, 1988. Pubmed reference: 3398875. DOI: 10.1002/mus.880110403. | ||
| 1987 | Jamison, J.M., Baird, J.D., Smith-Maxie, L.L., Hulland, T.J. : | |
| A congenital form of myotonia with dystrophic changes in a quarterhorse. Equine Vet J 19:353-8, 1987. Pubmed reference: 3622468. | ||
| McKerrell, R.E. : | ||
| Myotonia in man and animals: confusing comparisons. Equine Vet J 19:266-7, 1987. Pubmed reference: 3622451. | ||
| 1962 | Steinberg, S., Botelho, S. : | |
| Myotonia in a horse. Science 137:979-80, 1962. Pubmed reference: 13916691. |
Edit History
- Created by Frank Nicholas on 16 Jan 2012
- Changed by Frank Nicholas on 17 Aug 2012