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Symbol
Name
ID
Psen1
presenilin 1
MGI:1202717
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Left ventricular hypertrophy
Dilated cardiomyopathy
Severely reduced left ventricular ejection fraction
Increased left ventricular end-diastolic volume
First degree atrioventricular block
Left bundle branch block
Congestive heart failure
Syncope
Disease(s) Associated with PSEN1
dilated cardiomyopathy 1U

Mouse Phenotypes
cardiovascular system phenotype
abnormal blood vessel morphology
supravalvar pulmonary trunk stenosis
abnormal vascular endothelial cell morphology
abnormal capillary morphology
decreased capillary density
abnormal brain vasculature morphology
abnormal skin vasculature morphology
abnormal vascular development
abnormal angiogenesis
vascular stenosis
double outlet right ventricle
ventricular septal defect
hemorrhage
intracranial hemorrhage
intracerebral hemorrhage
intraventricular hemorrhage
spinal hemorrhage
increased vasodilation
Availability Mouse Genotype
Psen1tm1.1(KOMP)Vlcg/Psen1tm1.1(KOMP)Vlcg
Psen1tm1.1Tcs/Psen1tm1.1Tcs
Psen1tm1Bdes/Psen1tm1Bdes
Psen1tm1Hko/Psen1tm1Hko
Psen1tm1Pcw/Psen1tm1Pcw
Psen1tm1Shn/Psen1tm1Shn
Psen1tm1Shs/Psen1tm1Shs
Psen1tm2.1Shn/Psen1tm2.1Shn *
Psen1tm1Mpm/Psen1tm1Shn
Psen1tm1Shn/Psen1tm1.1Tcs

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
05/14/2024
MGI 6.23
The Jackson Laboratory