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Symbol
Name
ID
Notch1
notch 1
MGI:97363
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
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
Mitral atresia
Double outlet right ventricle
Tetralogy of Fallot
Bicuspid aortic valve
Aortic valve calcification
Abnormal pulmonary valve morphology
Hypoplastic left heart
Pulmonary artery atresia
Pulmonary artery stenosis
Patent ductus arteriosus
Arteriovenous malformation
Aortic valve stenosis
Mitral stenosis
Pulmonic stenosis
Hypertension
Portal hypertension
Pulmonary arterial hypertension
Splenomegaly
Hypersplenism
Cavernous hemangioma
Cutis marmorata
Disease(s) Associated with NOTCH1
Adams-Oliver syndrome
aortic valve disease 1

Mouse Phenotypes
cardiovascular system phenotype
abnormal artery morphology
abnormal dorsal aorta morphology
abnormal retina blood vessel morphology
abnormal intersomitic vessel morphology
dilated liver sinusoidal space
abnormal placenta vasculature
abnormal placental labyrinth vasculature morphology
abnormal vascular development
abnormal angiogenesis
abnormal vascular branching morphogenesis
abnormal anterior cardinal vein morphology
decreased angiogenesis
increased angiogenesis
abnormal vasculogenesis
abnormal vitelline vasculature morphology
absent vitelline blood vessels
abnormal myocardium layer morphology
trabecula carnea hypoplasia
thin myocardium compact layer
disorganized myocardium
myocardium hypoplasia
thin myocardium
abnormal cardiac epithelial to mesenchymal transition
abnormal heart development
delayed heart looping
abnormal coronary vessel morphology
absent coronary vessels
calcified aortic valve cusp
thick aortic valve cusps
hemopericardium
abnormal epicardium morphology
distended pericardium
pericardial effusion
hemorrhage
internal hemorrhage
hemoperitoneum
aortic valve inflammation
cornea vascularization
Availability Mouse Genotype
Notch1sot/Notch1sot
Notch1tm1Con/Notch1tm1Con
Notch1tm1Grid/Notch1tm1Grid
Notch1tm1Rko/Notch1tm1Rko
Notch1tm2Agt/Notch1tm2Agt
Notch1tm1Con/Notch1+ *
Notch1tm1Grid/Notch1+
Notch1tm2Pst/Notch1tm2.1Pst
Notch1tm1Agt/Notch1tm1Agt
Tg(Tek-cre)1Ywa/0  (conditional)
Notch1tm1Agt/Notch1tm1Agt
Tg(Tek-cre)12Flv/0  (conditional)
Notch1tm1Agt/Notch1tm1Agt
Tg(Wt1-cre)#Jbeb/0  (conditional)
Gt(ROSA)26Sortm1(Notch1)Dam/Gt(ROSA)26Sor+
Tg(Wt1-cre)#Jbeb/0  (conditional)
Notch1tm1Con/Notch1tm1Grid
Tg(Pax2-cre)1Akg/0  (conditional)
Notch1tm2Rko/Notch1tm3(cre)Rko  (conditional)
Notch1tm2Rko/Notch1tm4(cre)Rko  (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
04/30/2024
MGI 6.23
The Jackson Laboratory