OMIA 002376-9823 : Heart defect, congenital, SAP130-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 609697 (gene)

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)

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


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