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. 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
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