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Symbol Name ID |
Rbpj
recombination signal binding protein for immunoglobulin kappa J region MGI:96522 |
| Darker colors indicate more annotations |
| Human Phenotypes | Gastrointestinal hemorrhage |
Portal vein thrombosis |
Right atrial enlargement |
Atrial septal defect |
Patent foramen ovale |
Ventricular septal defect |
Right ventricular hypertrophy |
Tetralogy of Fallot |
Bicuspid aortic valve |
Abnormal pulmonary valve morphology |
Hypoplastic left heart |
Pulmonary artery atresia |
Pulmonary artery stenosis |
Patent ductus arteriosus |
Arteriovenous malformation |
Aortic valve stenosis |
Pulmonic stenosis |
Hypertension |
Portal hypertension |
Pulmonary arterial hypertension |
Splenomegaly |
Hypersplenism |
Cavernous hemangioma |
Cutis marmorata |
| Disease(s) Associated with RBPJ | ||||||||||||||||||||||||
| Adams-Oliver syndrome |
| Mouse Phenotypes | abnormal blood vessel morphology |
abnormal dorsal aorta morphology |
abnormal placental labyrinth vasculature morphology |
abnormal vascular regression |
abnormal anterior cardinal vein morphology |
abnormal common cardinal vein morphology |
absent vitelline blood vessels |
arteriovenous malformation |
abnormal myocardium layer morphology |
trabecula carnea hypoplasia |
disorganized myocardium |
abnormal cardiac epithelial to mesenchymal transition |
abnormal heart development |
abnormal atrioventricular cushion morphology |
abnormal aortic valve morphology |
calcified aortic valve cusp |
thick aortic valve cusps |
pericardial effusion |
cardiac fibrosis |
decreased cardiac muscle contractility |
abnormal fetal cardiomyocyte proliferation |
abnormal heart echocardiography feature |
aortic valve inflammation |
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| Availability | Mouse Genotype | |||||||||||||||||||||||
| Rbpjtm1Kyo/Rbpjtm1Kyo | ||||||||||||||||||||||||
| Rbpjtm1Kyo/Rbpj+ | ||||||||||||||||||||||||
| Rbpjtm1Hon/Rbpjtm1Hon Mesp1tm2(cre)Ysa/Mesp1+ (conditional) |
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| Rbpjtm1Kyo/Rbpjtm1Hon Tg(Tek-cre)12Flv/0 (conditional) |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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