OMIA:000698-9940 : Myotonia in Ovis aries
Categories: Muscle phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: Myotonia congenita
Molecular basis: Using a comparative candidate gene approach (based on the same clinical signs being due to mutations in CLCN1 in goats, horse and humans [see related entries at the top of this page]), Monteagudo et al. (2015) sequenced this gene in two affected lambs and three unrelated unaffecteds from Spanish flocks of the Rasa Aragonesa breed. They reported "In the second exon, a g.106140081G>A transversion was found in homozygosity in both affected individuals (GenBank number NC_019461.1 numbering), resulting in a p.Gln93Lys substitution in the amino acid sequence. Both lambs were born from ewes heterozygous for this SNV (GA), verified by DNA sequencing. Five of the 27 rams in service at the farm were also found to be heterozygous GA, while the remainder was homozygous GG. No AA individuals were detected among the adult individuals." 40 unrelated rams from other flocks were homozygous GG. Importantly, "Removing the GA rams in May 2013 and replacing them with GG rams from the same flock allowed us to prevent occurrence of homozygous AA new-born lambs in the flock and to confirm association between the SNV [single nucleotide variant] and the pathology. As of 22 December 2014, no additional affected lambs had been born, further supporting the role of this SNV in the pathology."
Clinical features: As reported by et al. (2015) "The symptoms were visible only after sudden visual and/or auditory stimulation or fast movements during normal flock management. When other individuals in the lot started evasive movements, the affected lambs maintained a rigid position with extended limbs and frequently fell to the ground. After 6–25 s, the lambs were able to stand and move normally."
Breed: Rasa Aragonesa, Spain (Sheep) (VBO_0015863).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN1||chloride channel, voltage-sensitive 1||Ovis aries||4||NC_056057.1 (107922466..107959090)||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.
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|
|245||Rasa Aragonesa, Spain (Sheep)||Myotonia||CLCN1||missense||Naturally occurring variant||Oar_rambouillet_v1.0||4||g.115541101G>A||c.277G>A||p.(E93K)||Oar_v3.1 position is g.106140081G>A published as p.Gln93Lys. cDNA and protein position predicted using Variant Effect Predictor ENSOART00020002372.1||rs401726021||2015||25744800||The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.|
Cite this entry
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. DOI: 10.1186/1297-9686-29-2-291.|
- Created by Frank Nicholas on 06 Sep 2005
- Changed by Frank Nicholas on 08 Mar 2015