Review Article
Genetic Insights into Bicuspid Aortic Valve Formation
Table 2
Mouse models of bicuspid aortic valve formation.
| Gene affected | Human cardiac phenotype | Mouse model | Mouse valve phenotype | Cardiovascular expression | Reference |
| Hoxa1 | IAAB, ASC, VSD, BAV, TOF | Hoxa1−/− | BAV | Neural crest cells, OFT endocardium and myocardium, Secondary heart field | [40] | NOS3 | Not reported | Nos3−/− | BAV | Endocardium, myocardium | [42] | Gata5 | Not reported | Gata5−/− and Tie2Cre; Gata5F/F | BAV | Endocardium, AV and OFT endocardial cushions, subset of endocardial cells, epicardium | [47] | Nkx2.5 | ASD, AV block, VSD, TOF, HCM | Nkx2.5GFPhet, Nkx2.5HDneohet | BAV, aortic aneurysm | Myocardium | [53] |
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ASC: aberrant subclavian artery; ASD: atrial septal defect; AV: atrioventricular; BAV: bicuspid aortic valve; HCM: hypertrophic cardiomyopathy; IAAB: interrupted aortic arch type B; VSD: ventricular septal defect; TOF: tetralogy of Fallot.
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