OMIA:002953-9823 : Cardiomyopathy, hypertrophic, MYH6-related in Sus scrofa (pig) |
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 160710 (gene) , 613252 (trait) , 613251 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2024
Species-specific description: Wang et al. (2024) "generated transgenic MYH7 R453C and MYH6 R453C piglets and found both developed typical cardiac hypertrophy." This phene includes references to studies involving gene edited or genetically modified organisms (GMO).
Genetic engineering:
Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LOC100736765 | myosin-6 | Sus scrofa | 7 | NC_010449.5 (75677666..75704486) | LOC100736765 | 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 | Variant Type | Variant Effect | Source of Genetic Variant | Pathogenicity Classification* | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1797 | Cardiomyopathy, hypertrophic | LOC100736765 | substitution | missense | Base-editing | Not currently ISAG evaluated | Sscrofa11.1 | 7 | NC_010449.5:g.75685084C>T | XM_021099233.1:c.1360C>T | XP_020954892.1:p.(R454C) | Published as p.(R453C) | 2024 | 38862020 |
* Variant pathogenicity for single gene diseases as evaluated by an expert panel of the International Society of Animal Genetics (ISAG) Animal Genetic Testing Standardization Standing Committee
Contact us
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Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002953-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Wang, L., Li, L., Zhao, D., Yuan, H., Zhang, H., Chen, J., Pang, D., Lu, Y., Ouyang, H. : |
| MYH7 R453C induced cardiac remodelling via activating TGF-β/Smad2/3, ERK1/2 and Nox4/ROS/NF-κB signalling pathways. Open Biol 14:230427, 2024. Pubmed reference: 38862020. DOI: 10.1098/rsob.230427. |
Edit History
- Created by Imke Tammen2 on 01 May 2025
- Changed by Imke Tammen2 on 01 May 2025