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Symbol
Name
ID
Ep300
E1A binding protein p300
MGI:1276116
Phenotype annotations related to cardiovascular system
Darker colors indicate more annotations
Human Phenotypes
Facial hemangioma
Abnormal cardiovascular system morphology
Atrial septal defect
Patent foramen ovale
Ventricular septal defect
Perimembranous ventricular septal defect
Mitral valve prolapse
Hypoplastic left heart
Vascular ring
Aortic isthmus hypoplasia
Coarctation of aorta
Persistent left superior vena cava
Patent ductus arteriosus
Accessory spleen
Polysplenia
Capillary hemangioma
Hepatic hemangioma
Disease(s) Associated with EP300
Rubinstein-Taybi syndrome

Mouse Phenotypes
abnormal vasculogenesis
abnormal vitelline vasculature morphology
absent trabeculae carneae
thin ventricle myocardium compact layer
myocardium hypoplasia
thin myocardium
abnormal heart development
abnormal epicardium development
delayed heart development
atrial septal defect
abnormal atrioventricular septum morphology
perimembraneous ventricular septal defect
ventricular septal defect
enlarged heart
abnormal heart valve morphology
thin ventricular wall
pericardial effusion
hemorrhage
internal hemorrhage
decreased cardiac muscle contractility
arteritis
Availability Mouse Genotype
Ep300tm1Dli/Ep300tm1Dli
Ep300tm1Reck/Ep300+
Cd19tm1(cre)Cgn/Cd19+
Ep300tm2Reck/Ep300+  (conditional)

Contributing Projects:
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
04/16/2024
MGI 6.23
The Jackson Laboratory