OMIA:000698-9925 : Myotonia in Capra hircus (goat) |
In other species: dog , domestic cat , horse , pig , taurine cattle , sheep , water buffalo
Categories: Muscle phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 160800 (trait) , 255700 (trait) , 118425 (gene)
Links to MONDO diseases: No links.
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).
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: "delayed relaxation of muscle secondary to sarcolemmal hyperexcitability . . . caused by diminished chloride conductance in the muscle cell membrane" (Beck et al., 1996)
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 |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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. (2022). OMIA:000698-9925: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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.
| 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 :93-4, 1990. Pubmed reference: 2284262. | |
| 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: https://doi.org/10.1093/brain/62.4.341. | |
| 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