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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Pkhd1
polycystic kidney and hepatic disease 1
MGI:2155808
58 phenotypes from 9 alleles in 13 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
involves: 129S/SvEv * 129S4/SvJae * C57BL/6
abnormal bile duct development J:125113
bile duct hyperplasia J:125113
bile duct inflammation J:125113
biliary cyst J:125113
dilated renal tubules J:125113
enlarged kidney J:125113
kidney cysts J:125113
liver cysts J:125113
liver fibrosis J:125113
neonatal lethality, incomplete penetrance J:125113
pancreas cysts J:125113
perinatal lethality, incomplete penetrance J:125113
postnatal growth retardation J:125113
respiratory failure J:125113
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
B6.129S6-Pkhd1tm1Cjwa
dilated proximal convoluted tubules J:140302
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
C.129S6-Pkhd1tm1Cjwa
abnormal proximal convoluted tubule morphology J:140302
dilated proximal convoluted tubules J:140302
kidney cysts J:140302
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
involves: 129S6/SvEvTac * FVB/N
abnormal cholangiocyte primary cilium morphology J:140302
abnormal liver morphology J:140302
abnormal pancreatic duct morphology J:140302
bile duct proliferation J:140302
dilated bile duct J:140302
dilated pancreatic duct J:140302
dilated proximal convoluted tubules J:140302
enlarged liver J:140302
kidney cysts J:140302
liver cysts J:140302
liver fibrosis J:140302
pancreas cysts J:140302
proximal convoluted tubule brush border loss J:140302
Pkhd1tm1Ggg/Pkhd1tm1Ggg
involves: 129S/SvEv * C57BL/6
no abnormal phenotype detected J:125113
Pkhd1tm1Gwu/Pkhd1tm1Gwu
involves: C57BL/6
decreased kidney cell proliferation J:167782
increased renal tubule apoptosis J:167782
Pkhd1tm1Gwu/Pkhd1tm1Gwu
Not Specified
abnormal brain morphology J:143394
abnormal liver morphology J:143124
abnormal papillary duct morphology J:143394
abnormal renal tubule epithelial cell primary cilium morphology J:143394
decreased glomerular capillary number J:143394
dilated pancreatic duct J:143124, J:143394
dilated proximal convoluted tubules J:143394
dilated renal tubules J:143124, J:143394
gastrointestinal ulcer J:143394
hepatic necrosis J:143394
increased glomerular capsule space J:143394
kidney cysts J:143394
liver cysts J:143394
liver fibrosis J:143394
mesangial cell hyperplasia J:143394
pancreas cysts J:143394
premature death J:143394
prenatal lethality, incomplete penetrance J:143394
renal fibrosis J:143394
renal necrosis J:143394
Pkhd1tm1Rbu/Pkhd1tm1Rbu
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
abnormal bile duct development J:112509
abnormal bile duct morphology J:112509
abnormal liver development J:112509
liver cysts J:112509
liver fibrosis J:112509
normal renal/urinary system phenotype J:112509
normal reproductive system phenotype J:112509
Pkhd1tm1Som/Pkhd1tm1Som
involves: 129S/SvEv
abnormal kidney epithelium morphology J:185863
abnormal mitotic spindle morphology J:185863
normal cellular phenotype J:185863
normal renal/urinary system phenotype J:185863
Pkhd1tm1Som/Pkhd1tm1Som
involves: 129S/SvEv * C57BL/6
abnormal hepatobiliary system morphology J:131370
bile duct proliferation J:131370
biliary cyst J:131370
dilated pancreatic duct J:131370
enlarged spleen J:131370
liver cysts J:131370
liver fibrosis J:131370
pancreas cysts J:131370
pancreas fibrosis J:131370
normal renal/urinary system phenotype J:131370
Pkhd1tm1Sswi/Pkhd1tm1Sswi
B6.Cg-Pkhd1tm1Sswi
abnormal extrahepatic bile duct morphology J:186064
abnormal gallbladder morphology J:186064
abnormal hepatic duct morphology J:186064
abnormal intrahepatic bile duct morphology J:186064
dilated bile duct J:186064
dilated renal tubules J:186064
kidney cysts J:186064
liver fibrosis J:186064
pancreas cysts J:186064
renal glomerulus cysts J:186064
renal interstitial fibrosis J:186064
Pkhd1tm1Sswi/Pkhd1tm1Sswi
involves: 129S/Sv
kidney cysts J:186064
Pkhd1tm2.1Cjwa/Pkhd1tm2.1Cjwa
B6.129(Cg)-Pkhd1tm2.1Cjwa
no abnormal phenotype detected J:187735
Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
either: B6.129(Cg)-Pkhd1tm2Cjwa or C.129(Cg)-Pkhd1tm2Cjwa
dilated proximal convoluted tubules J:187735
normal endocrine/exocrine gland phenotype J:187735
increased kidney weight J:187735
increased liver weight J:187735
kidney cysts J:187735
liver cysts J:187735
liver fibrosis J:187735

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/19/2017
MGI 6.10
The Jackson Laboratory