Categories: Cardiovascular system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 609697 (gene)

Single-gene trait/disorder: yes

Disease-related: 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: 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: