OMIA:002212-9823 : Cardiomyopathy, hypertrophic, MYH7-related in Sus scrofa (pig) |
In other species: domestic cat , rabbit
Categories: Cardiovascular system phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 192600 (trait) , 160760 (gene) , 613426 (trait)
Single-gene trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2018
Species-specific description:
Montag et al. (2018) "used TALEN-mediated genome editing and successfully introduced the HCM-point mutation R723G into the MYH7 gene of porcine fibroblasts and subsequently cloned pigs that were heterozygous for the HCM-mutation R723G. No off-target effects were determined in the R723G-pigs. Surprisingly, the animals died within 24 h post partem, probably due to heart failure as indicated by a shift in the a/ß-MyHC ratio in the left ventricle. Most interestingly, the neonatal pigs displayed features of HCM, including mild myocyte disarray, malformed nuclei, and MYH7-overexpression."
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).
See also: OMIA:001200-9823 : Tremor, high-frequency in Sus scrofa (pig) for a naturally occuring MYH7 variant in pigs.
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 |
|---|---|---|---|---|---|---|
| MYH7 | myosin, heavy chain 7, cardiac muscle, beta | Sus scrofa | 7 | NC_010449.5 (75650841..75672908) | MYH7 | 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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1798 | Cardiomyopathy, hypertrophic | MYH7 | missense | Base-editing | Sscrofa11.1 | 7 | NC_010449.5:g.75656919C>T | NM_213855.2:c.1357C>T | NP_999020.2:p.(R453C) | 2024 | 38862020 | |||||
| 1799 | Cardiomyopathy, hypertrophic | MYH7 | missense | Genome-editing (TALEN) | Sscrofa11.1 | 7 | NC_010449.5:g.75660381C>G | NM_213855.2:c.2167C>G | NP_999020.2:p.(R723G) | 2018 | 29555974 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2025). OMIA:002212-9823: 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.
| 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. | |
| 2021 | Tanihara, F., Hirata, M., Otoi, T. : |
| Current status of the application of gene editing in pigs. J Reprod Dev 67:177-187, 2021. Pubmed reference: 33840678. DOI: 10.1262/jrd.2021-025. | |
| 2018 | Montag, J., Petersen, B., Flögel, A.K., Becker, E., Lucas-Hahn, A., Cost, G.J., Mühlfeld, C., Kraft, T., Niemann, H., Brenner, B. : |
| Successful knock-in of hypertrophic cardiomyopathy-mutation R723G into the MYH7 gene mimics HCM pathology in pigs. Sci Rep 8:4786, 2018. Pubmed reference: 29555974. DOI: 10.1038/s41598-018-22936-z. |
Edit History
- Created by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 26 Dec 2021
- Changed by Imke Tammen2 on 10 Dec 2023
- Changed by Imke Tammen2 on 29 Jan 2025
- Changed by Imke Tammen2 on 01 May 2025