Table 1.
Mouse mutations in ECM genes associated with heart valve abnormalities
| ECM | Genotype | Phenotype | Ref. |
|---|---|---|---|
| Proteoglycan-related | |||
| Hyaluronan | Has2−/− | Lethal E9.5a; Lack endocardial cushions | (52) |
| Versican | hdf | Lethal E10.5; Lack endocardial cushions; OFT defects | (53) |
| Perlecan | Perlecan−/− | Lethal E10-P0; OFT cushion defects; other heart defects | (104) |
| Cartilage Link Protein | Crtl1−/− | Lethal P0; valvuloseptal defects and other abnormalities | (55) |
| ADAMTS9 | Adamts9+/− | Aortic valve cusp and annulus malformations | (98) |
| Elastic fiber-related | |||
| Elastin | Eln−/− | P0 death from vascular obstruction | (56) |
| Eln+/− | Aortic valve cusp and annulus malformations | (58) | |
| Fibrillin-1 | Fbn1−/− | Lethality by P14 from vascular complications | (105) |
| Fbn1+/− | Mitral valve prolapse | (94) | |
| Fibulin-4 | Fibulin4-R/R | Adult thickened aortic valves and vascular defects | (106) |
| Fibrillar collagen-related | |||
| Periostin | Postn−/− | Spectrum of lethal and non-lethal valve defects | (59) |
| Collagen 1a1 | OIM | Thickening of adult semilunar valves | (Yutzey, unpublished) |
| Collagen 3a1 | Col3a1−/− | Aortic aneurysm; valves not examined | (95) |
| Collagen 11 | Col11a1−/− | P0 lethality; Thickened heart valves | (61, 107) |
a
Abbreviations: E embryonic day; P postnatal day; OFT outflow tract.