Pkhd1 Phenotype Annotations

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

Allelic Composition Genetic Background	Annotated Term	Reference
Pkhd1^cyli/Pkhd1^cyli D2.Cg-(D4Mit42-D4Smh6b) Pkhd1^cyli/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
Pkhd1^em1Mrug/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
Pkhd1^em1Mrug/Pkhd1^em1Mrug involves: C57BL/6J	abnormal kidney morphology	J:281464
	dilated bile duct	J:281464
	dilated proximal convoluted tubule	J:281464
	liver fibrosis	J:281464
Pkhd1^tm1.1Ggg/Pkhd1^tm1.1Ggg 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
Pkhd1^tm1Cjwa/Pkhd1^tm1Cjwa B6.129S6-Pkhd1^tm1Cjwa	dilated proximal convoluted tubule	J:140302
Pkhd1^tm1Cjwa/Pkhd1^tm1Cjwa C.129S6-Pkhd1^tm1Cjwa	abnormal proximal convoluted tubule morphology	J:140302
	dilated proximal convoluted tubule	J:140302
	kidney cyst	J:140302
Pkhd1^tm1Cjwa/Pkhd1^tm1Cjwa 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
Pkhd1^tm1Ggg/Pkhd1^tm1Ggg involves: 129S/SvEv * C57BL/6	no abnormal phenotype detected	J:125113
Pkhd1^tm1Gwu/Pkhd1^tm1Gwu involves: C57BL/6	decreased kidney cell proliferation	J:167782
Pkhd1^tm1Gwu/Pkhd1^tm1Gwu involves: C57BL/6	increased renal tubule apoptosis	J:167782
Pkhd1^tm1Gwu/Pkhd1^tm1Gwu 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
Pkhd1^tm1Rbu/Pkhd1^tm1Rbu 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
Pkhd1^tm1Som/Pkhd1^tm1Som 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
Pkhd1^tm1Som/Pkhd1^tm1Som 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
Pkhd1^tm1Sswi/Pkhd1^tm1Sswi B6.Cg-Pkhd1^tm1Sswi	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
Pkhd1^tm1Sswi/Pkhd1^tm1Sswi involves: 129S/Sv	kidney cyst	J:186064
Pkhd1^tm2.1Cjwa/Pkhd1^tm2.1Cjwa B6.129(Cg)-Pkhd1^tm2.1Cjwa	no abnormal phenotype detected	J:187735
Pkhd1^tm2Cjwa/Pkhd1^tm2Cjwa either: B6.129(Cg)-Pkhd1^tm2Cjwa or C.129(Cg)-Pkhd1^tm2Cjwa	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

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