Table 1.
Genes Expressed in Pro-Endocardial and Endocardial Cells
| Gene | Species | Expression | Tissue Contribution |
Null Phenotype | CHD |
|---|---|---|---|---|---|
| Etv2 | Mouse (Ferdous A, 2009) |
E7.75 – E9.5 (Ferdous A, 2009) |
Endocardium, Endothelium (Ferdous A, 2009) |
Embryonic lethal, Lack endocardial and endothelial lineages (Ferdous A, 2009) |
|
| Gata4 | Mouse (Kuo CT, 1997) |
Splanchnic mesoderm E7.0 – Adult (Kuo CT, 1997) |
Endocardium, Myocardium (Kuo CT, 1997) |
Embryonic lethal, Disrupted ventral body patterning, Lack heart tube (Kuo CT, 1997) |
ASD, VSD (Garg V, 2003), Cardia bifidia (Kuo CT, 1997) |
| Mef2c | Mouse | Cardiac Crescent E7.5- 16.5 (Dodou E, 2004) |
Endocardium, Myocardium (Verzi MP, 2005) |
Defective heart looping, Right ventricle fails to form (Dodou E, 2004), Embryonic lethal |
|
| Nfatc1 | Mouse (Misfeldt AM, 2009), Chicken (Liberatore CM, 2004) |
Cardiac Crescent E7.5 - E14.5 (Misfeldt AM, 2009) |
Endocardium (Misfeldt AM, 2009) |
Semilunar and atrioventricular valve defects, Congestive heart failure during gestation, endocardial cushion fails to grow and remodel (Misfeldt AM, 2009; Ranger AM, 1998) |
VSD (de la Pompa JL, 1998; Ranger AM, 1998) |
| Tie | Mouse (Kisanuki YY, 2001; Puri MC, 1995) |
E8 – Adult (Puri MC, 1995), E7.5 - E12.5 (Dumont DJ, 1994; Kisanuki YY, 2001) |
Endocardium (Puri MC, 1999), Endothelium (Kisanuki YY, 2001; Puri MC, 1995) |
Abdominal edema, Ruptured microvasculature, Extensive hemorrhage (Puri MC, 1995), Poorly developed vasculature, Endocardium possess fewer endothelial cells and associated weakly with the myocardium (Dumont DJ, 1994), Endocardial cells fail to contribute to endocardium of the ventricles and atrium (Puri MC, 1999), Embryonic lethal |
VM (Vikkula M, 1996) |
| Nrg1 | Mouse (Meyer D, 1995) |
E6.5- Adult (Meyer D, 1995; Meyer D, 1997) |
Endocardium (Meyer D, 1995) |
Embryonic lethal, Poorly developed ventricular trabeculaes (Meyer D, 1995) |
|
| ErbB3 | Mouse (Camenisch TD, 2002) |
E9.5 – Adult (Camenisch TD, 2002) |
Endocardial cushion mesenchyme (Camenisch TD, 2002) |
Embryonic lethal, Cardiac cushion abnormalities (Erickson SL, 1997) |
AVSD (Camenisch TD, 2002) |
| ErbB2 | Mouse (Camenisch TD, 2002) |
E9.5 - Adult (Camenisch TD, 2002) |
Endocardium, Myocardium (Camenisch TD, 2002) |
Embryonic lethal, Lack of differentiated ventricular myocytes (Erickson SL, 1997) |
AVSD (Camenisch TD, 2002) |
| ErbB1 | Mouse (Chen B, 2000) |
Pre-Implantation (Wiley LM, 1992)-Adult (Luetteke NC, 1994) |
All cell lineages (Wiley LM, 1992) |
Lethal, Semilunar valve enlargment (Chen B, 2000) |
AS (Chen B, 2000) |
| Brg1 | Mouse (Stankunas and others, 2008) |
E9.5-Adult (Stankunas and others, 2008) |
Endocardium, Myocardium (Stankunas and others, 2008) |
Peri-implantation lethality (Bultman and others, 2000) |
|
Abbreviations: ASD, atrial septal defect; VM, venous malformations; TOF, tetralogy of Fallot; AVSD, atrioventricular septal defect; Aortic stenosis, AS; and VSD, ventricular septal defect