OMIA 000698-9940 : Myotonia in Ovis aries
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN1||chloride channel, voltage-sensitive 1||Ovis aries||4||NC_040255.1 (115537504..115574158)||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.
|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|
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.
|2015||Monteagudo, L.V., Tejedor, M.T., Ramos, J.J., Lacasta, D., Ferrer, L.M. :|
|Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene. Vet J 204:128-9, 2015. Pubmed reference: 25744800. DOI: 10.1016/j.tvjl.2015.01.014.|
|1997||Moore, G.A., Dyer, K.R., Dyer, R.M., Sponenberg, D.P. :|
|Autosomal recessive myotonia congenita in sheep Genetics Selection Evolution 29:291-294, 1997.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 08 Mar 2015