Table 2.
Genetically engineered mice model presenting mitral valve defects
| Gene | Protein | Murin valve phenotype |
|---|---|---|
| ADAM17 | ADAM metallopeptidase domain 17 | Abnormal mitral valve morphology |
| ADAM19 | ADAM metallopeptidase domain 19 | Abnormal mitral valve morphology |
| ARSB | Arylsulfatase B | Abnormal mitral valve morphology |
| Mitral valve regurgitation | ||
| BMPR1A | Bone morphogenetic protein receptor type-1 A | Mitral valve regurgitation |
| Abnormal mitral valve morphology | ||
| CREBbp | CREB-binding protein | Abnormal mitral valve morphology |
| CXCR4 | Chemokine (C-X-C motif) receptor 4 | Thickened mitral valve |
| CYR61 | Cysteine-rich, angiogenic inducer, 61 | Abnormal mitral valve morphology |
| DNAH11 | Dynein, axonemal, heavy chain 11 | Abnormal mitral valve morphology |
| D0CK1 | Dedicator of cytokinesis 1 | Thickened mitral valve |
| EFNA1 | Ephrine A | Thickened mitral valve |
| EFNB2 | Ephrine-2B | Thickened mitral valve |
| EHMT1 | Euchromatic histone-lysine N-methyltransferase 1 | Abnormal mitral valve morphology |
| GJA5 | Connexine 40 | Mitral valve stenosis |
| HBEGf | Heparin-binding EGF-like growth factor | Abnormal mitral valve morphology |
| HEY2 | Hairy/enhancer-of-split related with YRPW motif protein 2 | Abnormal mitral valve morphology |
| Mitral valve regurgitation | ||
| Thickened mitral valve | ||
| IDUA | Iduronidase alpha L | Abnormal mitral valve morphology |
| Mitral valve regurgitation | ||
| MEGF8 | Multiple EGF-like-domains 8 | Abnormal mitral valve morphology |
| NF1 | Neurofibromin | Abnormal mitral valve morphology |
| NFATC1 | Nuclear factor of activated T cells, cytoplasmic, calcineurin-dependent 1 | Abnormal mitral valve morphology |
| NTF3 | Neurotrophine 3 | Thickened mitral valve |
| NTRK3 | Neurotrophic tyrosine kinase, receptor, type 3 | Abnormal mitral valve morphology |
| PDLIM7 | PDZ and LIM domain 7 | Abnormal mitral valve morphology |
| Abnormal mitral valve annulus | ||
| RXRA | Retinoid X receptor, alpha | Abnormal mitral valve morphology |
| Mitral valve stenosis | ||
| Mitral valve atresia | ||
| SH3PXD2B | SH3 and PX domains 2B (SH3PXD2B) | Abnormal mitral valve morphology |
| Mitral valve prolapse | ||
| SMAD6 | SMAD family member 6 | Thickened mitral valve |
| SOX9 | SRY (sex determining region Y)-box 9 | Abnormal mitral valve morphology |
| Calcified mitral valve | ||
| TLL1 | Tolloid-like 1 | Abnormal mitral valve morphology |