OMIA:002212-9823 : Cardiomyopathy, hypertrophic, MYH7-related in Sus scrofa (pig)

In other species: domestic cat , rabbit

Categories: Cardiovascular system phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 192600 (trait) , 160760 (gene) , 613426 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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." This phene includes references to studies involving 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
MYH7 myosin, heavy chain 7, cardiac muscle, beta Sus scrofa 7 NC_010449.5 (75650841..75672908) MYH7 Homologene, Ensembl , NCBI gene

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002212-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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.

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