OMIA:002376-9823 : Heart defect, congenital, SAP130-related in Sus scrofa (pig) |
Categories: Cardiovascular system phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 609697 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: no
Species-specific description: Gabriel et al. (2021): "Genetically edited pigs generated with mutation in chromatin modifier SAP130 exhibited tricuspid dysplasia, with tricuspid atresia associated with early embryonic lethality. ... 3 SAP130 null piglets ... were born with anal atresia and failure to thrive, and were subsequently euthanized. ... One of these neonates also showed an oval fossa atrial septal defect." (Genetically modified organism, GMO)
Genetic engineering:
Unknown
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 |
|---|---|---|---|---|---|---|
| SAP130 | Sin3A-associated protein, 130kDa | Sus scrofa | 15 | NC_010457.5 (59312401..59408813) | SAP130 | Homologene, Ensembl , NCBI gene |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2021). OMIA:002376-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2021 | Gabriel, G.C., Devine, W., Redel, B.K., Whitworth, K.M., Samuel, M., Spate, L.D., Cecil, R.F., Prather, R.S., Wu, Y., Wells, K.D., Lo, C.W. : |
| Cardiovascular development and congenital heart disease modeling in the pig. J Am Heart Assoc 10:e021631, 2021. Pubmed reference: 34219463. DOI: 10.1161/JAHA.121.021631. |
Edit History
- Created by Imke Tammen2 on 11 Aug 2021