OMIA:000698-9925 : Myotonia in Capra hircus (goat)

In other species: dog , domestic cat , horse , pig , taurine cattle , sheep , water buffalo

Categories: Muscle phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 160800 (trait) , 255700 (trait) , 118425 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1996

Cross-species summary: Myotonia congenita

History: This disorder was first reported in goats by White and Plaskett (1904).

Molecular basis: By cloning and sequencing a very likely comparative candidate gene (based on the homologous disorder in humans and mice), Beck et al. (1996) reported the causal mutation as a "single nucleotide change causing the substitution of proline for a conserved alanine residue in the carboxyl terminus of the goat muscle chloride channel (gCIC-1)" (now called CLCN1).

Clinical features: "delayed relaxation of muscle secondary to sarcolemmal hyperexcitability . . . caused by diminished chloride conductance in the muscle cell membrane" (Beck et al., 1996)

Breed: Tennessee Fainting (Goat) (VBO_0000844).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CLCN1 chloride channel, voltage-sensitive 1 Capra hircus 4 NC_030811.1 (13893461..13856529) 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.

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 Year Published PubMed ID(s) Acknowledgements
224 Myotonia CLCN1 missense Naturally occurring variant ARS1 4 g.13857007C>G c.2590G>C p.(P864A) ENSEMBL Variant Effect Predictor: transcript ENSCHIT00000031898.1 rs5334475115 1996 8855341

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000698-9925: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

2000 Camerino, D.C., Pierno, S., De Luca, A., Bryant, S.H. :
Antimyotonic effects of tocainide enantiomers on skeletal muscle fibers of congenitally myotonic goats. Neuromuscul Disord 10:160-4, 2000. Pubmed reference: 10734261.
1996 Beck, C.L., Fahlke, C., George, A.L. :
Molecular basis for decreased muscle chloride conductance in the myotonic goat Proceedings of the National Academy of Sciences of the United States of America 93:11248-11252, 1996. Pubmed reference: 8855341.
1991 Bryant, S.H., Conte-Camerino, D. :
Chloride channel regulation in the skeletal muscle of normal and myotonic goats. Pflugers Arch 417:605-10, 1991. Pubmed reference: 1711670.
1990 Conte Camerino, D., Bryant, S.H., Mambrini, M., Franconi, F., Giotti, A. :
The action of taurine on muscle fibers of normal and congenitally myotonic goats. Pharmacol Res 22 Suppl 1:93-4, 1990. Pubmed reference: 2284262. DOI: 10.1016/1043-6618(90)90824-w.
1984 Martin, A.F., Bryant, S.H., Mandel, F. :
Isomyosin distribution in skeletal muscles of normal and myotonic goats. Muscle Nerve 7:152-60, 1984. Pubmed reference: 6717492. DOI: 10.1002/mus.880070212.
1981 Atkinson, J.B., Swift, L.L., Lequire, V.S. :
Myotonia congenita. A histochemical and ultrastructural study in the goat: comparison with abnormalities found in human myotonia dystrophica. Am J Pathol 102:324-35, 1981. Pubmed reference: 7212017.
DeCoursey, T.E., Bryant, S.H., Owenburg, K.M. :
Dependence of membrane potential on extracellular ionic concentrations in myotonic goats and rats. Am J Physiol 240:C56-63, 1981. Pubmed reference: 6257116. DOI: 10.1152/ajpcell.1981.240.1.C56.
1980 Swift, L.L., Atkinson, J.B., Perkins, R.C., Dalton, L.R., LeQuire, V.S. :
Electron paramagnetic resonance and saturation transfer electron paramagnetic resonance studies on erythrocytes from goats with and without heritable myotonia. J Membr Biol 52:165-72, 1980. Pubmed reference: 6245217.
1979 Bryant, S.H. :
Myotonia in the goat. Ann N Y Acad Sci 317:314-25, 1979. Pubmed reference: 289314.
Swift, L.L., Atkinson, J.B., LeQuire, V.S. :
The composition and calcium transport activity of the sarcoplasmic reticulum from goats with and without heritable myotonia. Lab Invest 40:384-90, 1979. Pubmed reference: 106184.
1974 Adrian, RH., Bryant, SH. :
On the repetitive discharge in myotonic muscle fibres. J Physiol 240:505-15, 1974. Pubmed reference: 4420758.
1972 Lipicky, R.J., Bryant, S.H. :
Temperature effects on cable parameters and K efflux in normal and myotonic goat muscle. Am J Physiol 222:213-5, 1972. Pubmed reference: 5060221.
1969 Bryant, S.H. :
Cable properties of external intercostal muscle fibres from myotonic and nonmyotonic goats. J Physiol 204:539-50, 1969. Pubmed reference: 5824104.
Harvey, J.C. :
Reduced renal arginine-glycine transamidinase activity in myotonic goats and in patients with myotonic muscular dystrophy. Johns Hopkins Med J 125:270-5, 1969. Pubmed reference: 5366126.
1968 Bryant, S.H., Lipicky, R.J., Herzog, W.H. :
Variability of myotonic signs in myotonic goats. Am J Vet Res 29:2371-81, 1968. Pubmed reference: 5749119.
1966 Lipicky, R.J., Bryant, S.H. :
Sodium, potassium, and chloride fluxes in intercostal muscle from normal goats and goats with hereditary myotonia Journal of General Physiology 50:89-111, 1966. Pubmed reference: 5971035.
1965 Burns, T.W., Dale, H.E., Langley, P.L. :
Normal and myotonic goats receiving diazacholesterol. Am J Physiol 209:1227-32, 1965. Pubmed reference: 5846925.
1962 Bryant, S. H. :
Muscle membrane of normal and myotonic goats in normal and low external chloride Fed. Proc. (Abstract) 21:312 only, 1962.
1958 Tum-Suden, C., Stoufer, R.M. :
The effect of atropine upon skeletal muscle in the goat with myotonia congenita. J Pharmacol Exp Ther 124:142-8, 1958. Pubmed reference: 13588525.
1939 Brown, G.L., Harvey, A.M. :
Congenital myotonia in the goat. Brain 62:341-363, 1939. DOI:
1933 Clark, S.L., Luton, F.H., Cutler, J.T. :
A form of congenital myotonia in goats. Anatomical Record 55:S12, 1933.
1904 White, G.R., Plaskett, J. :
Nervous, stiff-legged, or fainting goats. American Veterinary Review 28:556-560, 1904.

Edit History

  • Created by Frank Nicholas on 16 Nov 2005
  • Changed by Frank Nicholas on 11 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 03 Feb 2012
  • Changed by Frank Nicholas on 03 Sep 2012
  • Changed by Frank Nicholas on 17 Aug 2013
  • Changed by Imke Tammen2 on 07 Nov 2022
  • Changed by Imke Tammen2 on 18 Jun 2024