Table.
Murine models of congenital heart disease
| Cardiac septation defects | ||||||
|---|---|---|---|---|---|---|
| Gaie | OMIM # | human CHD phenotype | Syndrome with associated CHD | Mouse Genotype | Mouse phenotype | References |
| ACVR1(ALK2) | 102576 | AVSD | Alk2fl/−, Tie2-Cre | AVSD, VSD | (Wang et al. 2005) | |
| CITED2 | 602937 | ASD, VSD | Cited2−/− | ASD, VSD, DORV, TA | (Bamforth et al. 2001) | |
| CREBBP | 600140 | ASD, VSD, CoA, PS, BAV | Rubinstein-Taybi syndrome | CBP+/− | ASD, VSD, BAV | (Oike et al. 1999) |
| EP300 | 602700 | ASD, VSD, CoA, PS, BAV | Rubinstein-Taybi syndrome | EP300+/AS | ASD, VSD | (Shikama et al. 2003) |
| GATA4 | 600576 | ASD, PS, TOF, VSD, AVSD | GataΔex2/wt | ASD, VSD, AVSD | (Rajagopal et al. 2007) | |
| Gata4G295Ski/wt | ASD, AS, PS | (Misra et al. 2012; LaHaye et al. 2019) | ||||
| KMT2D | 602113 | AS, CoA, ASD, VSD, BAV, HLHS, TOF | Kabuki syndrome | Kmt2fl/fl, Mef2c-AHF-Cre | VSD | (Ang et al. 2016a) |
| NIPBL | 608667 | ASD, VSD, PS | Comelia de Lange syndrome | Nipbl+/− | ASD, VSD | (Kawauchi et al. 2009) |
| NKX2–5 | 600584 | ASD, atrioventricular conduction delay, TOF, VSD, HLHS | Nkx2. 5+/− | ASD, PFO, VSD, AVSD, BAV, AS | (Biben et al. 2000; Winston et al. 2010) | |
| Nkx2 S+/R52G | ASD, VSD, AVSD, Ebstein’s anomaly, atrioventricular block, tricuspid valve atresia | (Ashraf et al. 2014; Chowdhury et al. 2015) | ||||
| Nkx2.5R141C/+ | ASD, atrioventricular block, VSD | (Zakariyah et al. 2017) | ||||
| PTPN11 | 176876 | PS, AVSD, CoA, ASD, VSD, TOF, left ventricular outflow tract obstruction | Noonan syndrome | Ptpn11D6IG/+ | ASD, AVSD, DORV | (Araki et al. 2004) |
| SHOC2 | 602775 | PS, AVSD, CoA, ASD, VSD, TOF | Noonan syndrome | Sur-8Δ/fl, Tie2-Cre | VSD, DORV, TGA | (Yi et al. 2010) |
| TBX5 | 601620 | ASD, VSD | Holt-Oram syndrome | Tbx5del/+ | ASD, atrioventricular block, VSD | (Bruneau et al. 2001) |
| Tbx5flox/flox, Tie2-Cre | ASD, PFO | (Nadeau et al. 2010) | ||||
| 190685 | ASD, VSD, AVSD, TOF | Down syndrome | Tc1 | VSD, AVSD | (O’Doherty et al. 2005) | |
| Dp(10)1Yey/+,Dp(16)1Yey/+,Dp(17)1Yey/+ | VSD, AVSD | (Yu et al. 2010) | ||||
|
Dp1Tyb Dp3Tyb |
VSD, AVSD, DORV | (Lana-Elola et al. 2016) | ||||
| Cardiac valve malformations | ||||||
| Gene | OMIM # | human CHD phenotype | Syndrome with associated CHD | Mouse Genotype | Mouse phenotype | References |
| DCHS1 | 603057 | MVP | Dchs1+/− | MVP | (Durst et al. 2015) | |
| GATA5 | 611496 | BAV | Gatay−/− Gatafl/fl; Tie2-Cre | BAV, AS | (Laforest et al. 2011) | |
| GATA6 | 601656 | TA, ASD, AVSD, TOF, BAV | Gata6− Gata6wt/fl; Isll-Crs | BAV | (Gharibeh et al. 2018) | |
| MATR3 | 164015 | BAV, CoA, PDA | Matr3+/− | BAV, CoA, PDA, VSD, DORV | (Quintero-Rivera et al. 2015) | |
| NOTCH1 | 190198` | BAV, AS, HLHS, TOF, PS, CAVD | Notch1+/− | BAV, CAVD, aortic aneurysm | (Nigam and Srivastava 2009; Nus et al. 2011; Bosse et al. 2013; Koenig et al. 2017) | |
| Notch1fl/fl , Nfatc1-enCre | BAV | (MacGrogan et al. 2016; Wang et al. 2017) | ||||
| Notch1+/− mTRG2 | CAVD, AS | (Theodoris et al. 2017) | ||||
| Nos3−/−; Notch1+/− | BAV, AS, AR, CAVD, TOF | (Bosse et al. 2013; Koenig et al. 2016) | ||||
| SMAD6 | 602931 | BAV, AS, CoA | Smad−/− | cardiac valve hyperplasia | (Galvin et al. 2000) | |
| Conotruncal and aortic arch artery defects | ||||||
| Gene | OMIM # | human CHD phenotype | Syndrome with associated CHD | Mouse Genotype | Mouse phenotype | References |
| CHD7 | 608892 | TOF, DORV, VSD, ASD, TA, PS, AS, MS, TS | CHARGE syndrome | Chd7+/− | IAA, aortic arch defects | (Randall et al. 2009) |
| CRKL | 602007 | TOF, TA, IAA, VSD, aortic arch defects | 22q11 deletion syndrome | Crkol−/− | IAA, VSD, overriding aorta, DORV | (Guns et al. 2001) |
| FOXC1 | 601090 | TOF | Foxc1−/− | CoA, semilunar valve dysplasia, IAA, VSD | (Winnier et al. 1999) | |
| FOXC2 | 602402 | TOF | Foxc2−/− | IAA, VSD | (Winnier et al. 1999) | |
| FOXH1 | 603621 | TOF, VSD | Foxh1C/− | right isomerism, ASD, VSD, TGA, DORV | (Yamamoto et al. 2003) | |
| JAG1 | 601920 | TOF, PS, ASD, VSD | Allagille syndrome | Jag1fl/fl , Islet1-Cre Jaglfl/fl , Mef2c-AHF-Cre | DORV, PS, TA, ASD, VSD, aortic arch defects | (High et al. 2009) |
| TBX1 | 602054 | TOF, TA, IAA, VSD, aortic arch defects | 22q11 deletion syndrome | Df1−/+ | Aortic arch defects, VSD | (Lindsay et al. 1999) |
| Tbx1Neo2/Neo | TOF, TA, DORV, IAA, VSD, aortic arch defects | (Zhang and Baldini 2008) | ||||
| Tbx1neo/neo | TA, IAA, VSD, aortic arch defects | (Hu et al. 2004) | ||||
| Tbx1+/− | IAA, aortic arch defects | (Lindsay et al. 2001; Zhang et al. 2005) | ||||
| ZFPM2(FOG2) | 603693 | TOF, DORV | Fog2−/− | TOF, ASD, VSD | (Tevosian et al. 2000; Pizzuti et al. 2003) | |
| Other cardiac defects | ||||||
| Gene | OMIM # | human CHD phenotype | Syndrome with associated CHD | Mouse Gmotype | Mouse phenotype | References |
| ELN | 130160 | SVAS | Williams-Beuren syndrome | Eln+/− | SVAS | (Li et al. 1998) |
| FBN1 | 134797 | BAV, AR, MVP, aortic aneurysm, aortic dissection | Marfan syndrome | Fbn1C1039G/+ | MVP, aortic aneurysm | (Ng et al. 2004; Habashi et al. 2006) |
AS, aortic valve stenosis; ASD, atrial septal defect; AR, aortic valve regurgitation; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CAVD, calcific aortic valve disease; CHD, congenital heart diseas; CoA, coarctation of aorta; DORV, double outlet right ventricle; HLHS, hypoplastic left heart syndrome; IAA, interrupted aortic arch; MS, mitral valve stenosis; MVP, mitral valve prolapse; PDA, patent ductus arteriosus; PFO, patent foremen ovale; PS, pulmonic valve stenosis; SVAS, supravalvar aortic stenosis; TA, truncus arteriosus; TGA, transposition of great arteries; TOF, tetralogy of Fallot; TS tricuspid valve stenosis; VSD, ventricular septal defect.