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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Pkhd1
polycystic kidney and hepatic disease 1
MGI:2155808
63 phenotypes from 11 alleles in 15 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Pkhd1cyli/Pkhd1cyli
D2.Cg-(D4Mit42-D4Smh6b) Pkhd1cyli/EiJ 		abnormal bile duct development J:343537
abnormal bile duct epithelium morphology J:343537
abnormal biliary tract morphology J:343537
bile duct epithelium hyperplasia J:343537
biliary cyst J:343537
dilated bile duct J:343537
enlarged liver J:343537
liver cyst J:343537
normal renal/urinary system phenotype J:343537
Pkhd1em1Mrug/Pkhd1+
involves: C57BL/6J 		abnormal kidney cortex morphology J:281464
abnormal kidney morphology J:281464
bile duct proliferation J:281464
biliary cyst J:281464
dilated bile duct J:281464
dilated proximal convoluted tubule J:281464
liver cyst J:281464
Pkhd1em1Mrug/Pkhd1em1Mrug
involves: C57BL/6J 		abnormal kidney morphology J:281464
dilated bile duct J:281464
dilated proximal convoluted tubule J:281464
liver fibrosis J:281464
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 tubule J:125113
enlarged kidney J:125113
kidney cyst J:125113
liver cyst J:125113
liver fibrosis J:125113
neonatal lethality, incomplete penetrance J:125113
pancreas cyst 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 tubule J:140302
Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
C.129S6-Pkhd1tm1Cjwa 		abnormal proximal convoluted tubule morphology J:140302
dilated proximal convoluted tubule J:140302
kidney cyst 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 tubule J:140302
enlarged liver J:140302
kidney cyst J:140302
liver cyst J:140302
liver fibrosis J:140302
pancreas cyst 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 tubule J:143394
dilated renal tubule J:143124, J:143394
gastrointestinal ulcer J:143394
hepatic necrosis J:143394
increased glomerular capsule space J:143394
increased mesangial cell number J:143394
kidney cyst J:143394
liver cyst J:143394
liver fibrosis J:143394
pancreas cyst 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 cyst 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 cyst J:131370
liver fibrosis J:131370
pancreas cyst 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 tubule J:186064
kidney cyst J:186064
liver fibrosis J:186064
pancreas cyst J:186064
renal glomerulus cyst J:186064
renal interstitial fibrosis J:186064
Pkhd1tm1Sswi/Pkhd1tm1Sswi
involves: 129S/Sv 		kidney cyst 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 tubule J:187735
normal endocrine/exocrine gland phenotype J:187735
increased kidney weight J:187735
increased liver weight J:187735
kidney cyst J:187735
liver cyst J:187735
liver fibrosis J:187735
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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07/02/2024
MGI 6.13 		The Jackson Laboratory