OMIA 000698-9685 : Myotonia in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN1||chloride channel, voltage-sensitive 1||Felis catus||A2||NC_018724.3 (158963698..158995074)||CLCN1||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
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|
|Myotonia||CLCN1||splicing||Felis_catus_6.2||A2||g.157306905G>T||c.1930+1G>T||2014||25356766||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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||Gandolfi, B., Daniel, R.J., O'Brien, D.P., Guo, L.T., Youngs, M.D., Leach, S.B., Jones, B.R., Shelton, G.D., Lyons, L.A. :|
|A novel mutation in CLCN1 associated with feline myotonia congenita. PLoS One 9:e109926, 2014. Pubmed reference: 25356766. DOI: 10.1371/journal.pone.0109926.|
|2004||Gaschen, F., Jaggy, A., Jones, B. :|
|Congenital diseases of feline muscle and neuromuscular junction. J Feline Med Surg 6:355-66, 2004. Pubmed reference: 15546767. DOI: 10.1016/j.jfms.2004.02.003.|
|1998||Hickford, F.H., Jones, B.R., Gething, M.A., Pack, R., Alley, M.R. :|
|Congenital myotonia in related kittens Journal of Small Animal Practice 39:281-285, 1998. Pubmed reference: 9673904.|
|Toll, J., Cooper, B. :|
|Feline congenital myotonia Journal of Small Animal Practice 39:499, 1998. Pubmed reference: 9816575.|
|Toll, J., Cooper, B., Altschul, M. :|
|Congenital myotonia in 2 domestic cats Journal of Veterinary Internal Medicine 12:116-119, 1998. Pubmed reference: 9560769.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 31 Dec 2015