OMIA:000698-9823 : Myotonia in Sus scrofa
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: 2019
Cross-species summary: Myotonia congenita
Species-specific description: Araújo et al. (2019) "describe for the first time the clinical and molecular characterization of a form of Hereditary Myotonia affecting pigs."
Inheritance: Araújo et al. (2019): "The condition seems to follow an autosomal recessive inheritance pattern exhibiting classical clinical signs of Hereditary Myotonia."
Molecular basis: Araújo et al. (2019): "sequenced the entire [CLCN1] coding region of two myotonic pigs (animals A and B) and two non-myotonic pigs (animals C1 and C2 of the control group). RT-PCR reactions carried out using cDNA samples of non-myotonic animals amplified specific products for each primer set designed, covering all CLCN1 gene coding region, whereas reactions using cDNA samples of myotonic animals did not amplify nucleotides of exons 15 and 16, suggesting the absence of those exons in myotonic pigs. ... To gain better insight into the deletion identified in transcripts of myotonic pigs, we sequenced a relevant genomic region of 6,390 nucleotides including a region within intron 14 up to a region within intron 16 in five myotonic animals ... and in two non-myotonic animals ... . Sequencing analysis revealed a 4,165-nucleotide intragenic deletion in all tested myotonic animals ... . The deletion comprised a partial fragment in the 3′ region of intron 14 (1,137 bp), exon 15 (214 bp), intron 15 (245 bp), exon 16 (134 bp), and a partial fragment in the 5′ region of intron 16 (2,435 bp). Sequencing analysis also mapped the exact breakpoint location at positions Chr18:6,912,538 and Chr18:6,916,702 (g. NC_010460.4 del 6912538_6916702)."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|CLCN1||chloride channel, voltage-sensitive 1||Sus scrofa||18||NC_010460.4 (6941530..6902540)||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|
|1365||Myotonia||CLCN1||deletion, gross (>20)||Naturally occurring variant||Sscrofa11.1||18||g.6912538_6916702del||2019||31666547|
Cite this entry
|2019||Araújo, C.E.T., Oliveira, C.M.C., Barbosa, J.D., Oliveira-Filho, J.P., Resende, L.A.L., Badial, P.R., Araujo-Junior, J.P., McCue, M.E., Borges, A.S. :|
|A large intragenic deletion in the CLCN1 gene causes Hereditary Myotonia in pigs. Sci Rep 9:15632, 2019. Pubmed reference: 31666547 . DOI: 10.1038/s41598-019-51286-7.|
- Created by Imke Tammen2 on 19 Oct 2021
- Changed by Imke Tammen2 on 19 Oct 2021