Table 2.
Selection of transgenic mice studies analyzing the effect of certain mutations on aortic valve formation and integrity.
| Mutation | Phenotype | References |
|---|---|---|
| Nos3−/− | 27% (15/55) of Nos3−/−embryos with BAV | (21) |
| Nos3−/− | 40% (5/12) of mature Nos3−/−mice with BAV | (66) |
| Gata5−/− | 25% (7/28) of Gata5−/−mice with BAV | (67) |
| Endothelial cell-specific Gata5−/− | 21% (3/14) of mice with BAV | (67) |
| Endocardial lineage-specific Brg1−/− | Heart defects, semilunar valve malformations, BAV (3/6 at E16.5) | (68) |
| Endothelium-specific Gata4−/− | Diverse malformations affecting processes leading to valve formation | (69) |
| Deletion of Vangl2 in SHF | Abnormal valve leaflets | (70) |
| Robo1−/− | Membranous ventricular septal defects (6/10 at E14.5) | (71) |
| Robo1−/−;Robo1−/− | Membranous ventricular septal defects (3/3 at E14.5), BAV (3/3 at E18.5) | (71) |
| Slit2−/− | Membranous ventricular septal defects (2/6 at E14.5), BAV (1/7 at E18.5) | (71) |
| Slit3−/− | Membranous ventricular septal defects (2/5 at E14.5) | (71) |
| Robo4−/− | Aortic valve defects (7/7), aortic aneurysm | (15) |
BAV, bicuspid aortic valve; SHF, second heart field.