OMIA 000698-9796 : Myotonia in Equus caballus
|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|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|161||New Forest Pony||Myotonia||CLCN1||missense||Naturally occurring variant||EquCab3.0||4||g.96518592A>C||c.1775A>C||p.(D592A)||c.1775A>C, Genbank acc. XM_001915636); p.D592A, Genbank acc. XP_001915671 (Wijnberg et al., 2014)||2012||22197188||(FN thanks Izabela De Assis Rocha, who provided genomic location in EquCab3.0 and the Genbank acc IDs, working under the supervision of Professor Ernie Bailey; 15 April 2020) Revised genomic location kindly provided by Cord Drögemüller; 21 May 2021|
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.
|2014||Valberg, S.J. :|
|Myotonic Disorders in Horses MSD (Veterinary) Manual [https://www.msdvetmanual.com/musculoskeletal-system/myopathies-in-horses/myotonic-disorders-in-horses] :, 2014.|
|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.|
- Created by Frank Nicholas on 16 Jan 2012
- Changed by Frank Nicholas on 17 Aug 2012
- Changed by Frank Nicholas on 15 Apr 2020