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Symbol
Name
ID
Pkd1
polycystin 1, transient receptor potential channel interacting
MGI:97603
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Mitral valve prolapse
Aortic root aneurysm
Abnormal systemic arterial morphology
Dilatation of the cerebral artery
Cerebral berry aneurysm
Mitral regurgitation
Hypertension
Disease(s) Associated with PKD1
autosomal dominant polycystic kidney disease
polycystic kidney disease 1

Mouse Phenotypes
cardiovascular system phenotype
abnormal blood vessel morphology
aortic dissection
aortic aneurysm
abnormal brain vasculature morphology
abnormal placenta vasculature
abnormal myocardium layer morphology
abnormal myocardial trabeculae morphology
thick myocardium
thin myocardium
heart left ventricle hypertrophy
heart right ventricle hypertrophy
abnormal conotruncal ridge morphology
failure of atrioventricular cushion closure
double outlet right ventricle
common atrioventricular valve
atrial septal defect
thick interventricular septum
ventricular septal defect
increased heart weight
cardiac hypertrophy
abnormal aortic valve cusp morphology
aortic valve stenosis
calcified aortic valve
thick ventricular wall
hemopericardium
cardiac fibrosis
dilated heart
dystrophic cardiac calcinosis
aneurysm
increased cardiac output
increased cardiac stroke volume
hemorrhage
subarachnoid hemorrhage
increased cardiac muscle contractility
hypertension
Availability Mouse Genotype
Pkd1b2b1585Clo/Pkd1b2b1585Clo
Pkd1tm1Djmp/Pkd1tm1Djmp
Pkd1tm1Ggg/Pkd1tm1Ggg
Pkd1tm1Hung/Pkd1tm1Hung *
Pkd1tm1Jzh/Pkd1tm1Jzh *
Pkd1tm1Maa/Pkd1tm1Maa
Pkd1tm1Rsa/Pkd1tm1Rsa
Pkd1tm1Shh/Pkd1tm1Shh
Pkd1tm1Som/Pkd1tm1Som *
Pkd1tm2.1Ggg/Pkd1tm2.1Ggg
Pkd1tm2.2Bol/Pkd1tm2.2Bol
Pkd1tm3.2Bol/Pkd1tm3.2Bol
Pkd1tm1Ggg/Pkd1tm2.1Ggg
Pkd1tm1Shh/Pkd1tm1.1Pcha
Tg(Pkd1)6Mtru/0
Tg(Pkd1)18Mtru/0
Tg(Pkd1)26Mtru/0
Pkd1tm1Ggg/Pkd1tm2Ggg
Meox2tm1(cre)Sor/Meox2+  (conditional)
*
Pkd1tm1Ggg/Pkd1tm2Ggg
Tg(Tek-cre)1Ywa/0  (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
05/14/2024
MGI 6.23
The Jackson Laboratory