ENSMUSG00000043760


Mus musculus

Features
Gene ID: ENSMUSG00000043760
  
Biological name :Pkhd1
  
Synonyms : Pkhd1 / PKHD1, fibrocystin/polyductin
  
Possible biological names infered from orthology : P08F94
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: A4
Gene start: 20057779
Gene end: 20618064
  
Corresponding Affymetrix probe sets: 10353346 (MoGene1.0st)   1419820_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000085794
NCBI entrez gene - 241035     See in Manteia.
MGI - MGI:2155808
RefSeq - XM_011238385
RefSeq - NM_153179
RefSeq - XM_006495521
RefSeq - XM_011238384
RefSeq Peptide - NP_694819
swissprot - E9PZ36
Ensembl - ENSMUSG00000043760
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 PKHD1ENSGALG00000042136Gallus gallus
 PKHD1ENSG00000170927Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q80ZA4 / Pkhd1l1 / Fibrocystin-L / Q86WI1* / PKHD1 like 1*ENSMUSG0000003872525
Cemip / Q8BI06 / Cell migration-inducing and hyaluronan-binding protein / Q8WUJ3* / cell migration inducing hyaluronan binding protein*ENSMUSG000000523536
Tmem2 / Q5FWI3 / Cell surface hyaluronidase / Q9UHN6* / transmembrane protein 2*ENSMUSG000000247546


Protein motifs (from Interpro)
Interpro ID Name
 IPR002909  IPT domain
 IPR006626  Parallel beta-helix repeat
 IPR011050  Pectin lyase fold/virulence factor
 IPR012334  Pectin lyase fold
 IPR013783  Immunoglobulin-like fold
 IPR014756  Immunoglobulin E-set
 IPR019316  G8 domain
 IPR028839  Fibrocystin
 IPR037524  PA14/GLEYA domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001822 kidney development IDA
 biological_processGO:0006874 cellular calcium ion homeostasis IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0010824 regulation of centrosome duplication ISO
 biological_processGO:0032006 regulation of TOR signaling IEA
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0051898 negative regulation of protein kinase B signaling IEA
 biological_processGO:0060271 cilium assembly IMP
 biological_processGO:0070372 regulation of ERK1 and ERK2 cascade IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005929 cilium IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016324 apical plasma membrane IEA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0072686 mitotic spindle IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000596 abnormal liver development "anomalous differentiation of the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gnl3Gt(W223E05)Wrst/Gnl3Gt(W223E05)Wrst,Trp53tm1Tyj/Trp53tm5Tyj
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dll1tm1Gos/Dll1tm2Gos,Jag2tm1Grid/Jag2tm1Grid
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J

 MP:0001654 hepatic necrosis "pathologic death of cells within, or a portion of, the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hace1tm1Pngr/Hace1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Hace1tm1Pngr/Hace1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0002138 abnormal liver/biliary system morphology "structural abnormality or aberrant development of any of the tissues of the liver or biliary system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dll1tm1Gos/Dll1tm2Gos,Jag2tm1Grid/Jag2tm1Grid
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hace1tm1Pngr/Hace1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Pkhd1tm2.1Cjwa/Pkhd1tm2.1Cjwa
Genetic Background: B6.129(Cg)-Pkhd1tm2.1Cjwa

 MP:0002705 dilated renal tubules "enlarged lumens of the loops of Henle and/or collecting ducts of the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hace1tm1Pngr/Hace1+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

Allelic Composition: Pkd2tm2Som/Pkd2+,Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0002928 abnormal bile duct morphology "malformation of the channels that secrete bile from the liver to the gall bladder and intestines" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gnl3Gt(W223E05)Wrst/Gnl3Gt(W223E05)Wrst,Trp53tm1Tyj/Trp53tm5Tyj
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

 MP:0002929 abnormal bile duct development "incomplete or aberrant differentiation of the channels that secrete bile from the liver to the gall bladder and intestines" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Gnl3Gt(W223E05)Wrst/Gnl3Gt(W223E05)Wrst,Trp53tm1Tyj/Trp53tm5Tyj
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Spo11tm1Mjn/Spo11tm1Mjn
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 MP:0003068 enlarged kidney "larger than average size of the kidney" [J:86005, pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0003215 renal interstitial fibrosis "formation of fibrous tissue within the interstices of the kidney as a result of repair or a reactive process" [RGD:Rat Genome Database submission]
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Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0003253 bile duct dilation "abnormal distention of the bile ducts due to accumulation of fluid or bile" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0003254 bile duct inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the bile ducts" [ncbi:Matthew Mailman, NCBI request, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0003255 bile duct proliferation "the appearance of an increased number of bile ducts in the liver; a sign of progressive liver disease" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Dll1tm1Gos/Dll1tm2Gos,Jag2tm1Grid/Jag2tm1Grid
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * 129X1/SvJ * C57BL/6J

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0003266 biliary cysts "the appearance of fluid-filled sacs within the bile ducts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkhd1tm1Som/Pkhd1tm1Som
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0003300 gastrointestinal ulcer "any lesion on the mucosal surface of the gastrointestinal tract, usually produced by the sloughing of inflammatory necrotic tissue" [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0003327 liver cysts "abnormal membranous sacs in any portion of the liver" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Gnl3Gt(W223E05)Wrst/Gnl3Gt(W223E05)Wrst,Trp53tm1Tyj/Trp53tm5Tyj
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkhd1tm1Som/Pkhd1tm1Som
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

Allelic Composition: Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
Genetic Background: either: B6.129(Cg)-Pkhd1tm2Cjwa or C.129(Cg)-Pkhd1tm2Cjwa

 MP:0003333 liver fibrosis "invasion of fibrous connective tissue into the liver, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Gnl3Gt(W223E05)Wrst/Gnl3Gt(W223E05)Wrst,Trp53tm1Tyj/Trp53tm5Tyj
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae

Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkhd1tm1Som/Pkhd1tm1Som
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

Allelic Composition: Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
Genetic Background: either: B6.129(Cg)-Pkhd1tm2Cjwa or C.129(Cg)-Pkhd1tm2Cjwa

 MP:0003334 pancreatic fibrosis "invasion of fibrous connective tissue into the pancreas, often resulting from inflammation or injury " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pkhd1tm1Som/Pkhd1tm1Som
Genetic Background: involves: 129S/SvEv * C57BL/6

 MP:0003336 pancreatic cysts "the appearance of fluid-filled sacs within the pancreas" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkhd1tm1Som/Pkhd1tm1Som
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0003675 kidney cysts "abnormal membranous sacs in any portion of the pair of organs responsible for urine secretion" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: C.129S6-Pkhd1tm1Cjwa

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

Allelic Composition: Pkd2tm2Som/Pkd2+,Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: involves: 129S/Sv

Allelic Composition: Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
Genetic Background: either: B6.129(Cg)-Pkhd1tm2Cjwa or C.129(Cg)-Pkhd1tm2Cjwa

 MP:0003917 increased kidney weight "greater heft of the organs responsible for urine secretion" [RGD:Rat Genome Database submission]
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Allelic Composition: Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
Genetic Background: either: B6.129(Cg)-Pkhd1tm2Cjwa or C.129(Cg)-Pkhd1tm2Cjwa

 MP:0003946 renal necrosis "pathological cell death in the kidney, usually due to irreversible damage" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0003985 renal fibrosis "formation of fibrous tissue in the kidney as a result of repair or a reactive process" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0004153 increased renal tubule apoptosis "increase in the number of renal tubule cells undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Itm2btm2.1Ldad/Itm2b+
Genetic Background: B6.129-Itm2btm2.1Ldad

 MP:0004756 abnormal proximal convoluted tubule morphology "any structural anomaly of the convoluted portion of the duct system of the nephron that extends from the renal glomeurlar capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle; fluid entering the proximal convoluted tubule is reabsorbed into the peritubular capillaries, including approximately two-thirds of the filtered salt and water and all filtered organic solutes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: C.129S6-Pkhd1tm1Cjwa

 MP:0004839 bile duct hyperplasia "overdevelopment or increased size of the bile ducts, usually due to an increase in the number of cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0004860 dilated kidney collecting duct "stretched or widened aperture of the luminal space of the collecting ducts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0004967 abnormal kidney epithelium morphology "any structural anomaly of the cellular avascular layer of the kidney luminar surfaces" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rab38em1Rkuhn/Rab38em1Rkuhn
Genetic Background: involves: C57BL/6JCrl * FVB/NCrl

 MP:0005084 abnormal gall bladder morphology "anomalous structure or development of the organ which serves as a storage reservoir for bile" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0009050 dilated proximal convoluted tubules "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron that extends from the renal glomerular capsule in the kidney cortex into the kidney medulla where it joins the loop of Henle" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: C.129S6-Pkhd1tm1Cjwa

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: B6.129S6-Pkhd1tm1Cjwa

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

Allelic Composition: Pkhd1tm2Cjwa/Pkhd1tm2Cjwa
Genetic Background: either: B6.129(Cg)-Pkhd1tm2Cjwa or C.129(Cg)-Pkhd1tm2Cjwa

 MP:0009143 abnormal pancreatic duct morphology "any structural anomaly of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A03.734.667]
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Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0009144 dilated pancreatic duct "an increase in volume of the luminal space of the excretory duct of the exocrine pancreas that collects fluid containing digestive enzymes and transports it to the duodenum" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A03.734.667]
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Allelic Composition: Pkhd1tm1Som/Pkhd1tm1Som
Genetic Background: involves: 129S/SvEv * C57BL/6

Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0009497 abnormal intrahepatic bile duct morphology "any structural anomaly of the passages within the liver for the conveyance of bile" [MESH:A03.159.183.158]
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Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0009498 abnormal extrahepatic bile duct morphology "any structural anomaly of the passages external to the liver for the conveyance of bile" [MESH:A03.159.183.079]
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Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0009501 abnormal hepatic duct morphology "any structural anomaly of the two canals (left and right) that collect and drain bile from the left and right half of the liver from the biliary ductules and join external to the liver to form the common hepatic duct" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0009760 abnormal mitotic spindle "an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis" [ISBN:8185198691 "Rieger R et al Eds Glossary of Genetics Classical and Molecular"]
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Allelic Composition: Rab38em1Rkuhn/Rab38em1Rkuhn
Genetic Background: involves: C57BL/6JCrl * FVB/NCrl

 MP:0011066 abnormal renal tubule epithelial cell primary cilium morphology "any structural anomaly of the single non-motile cilium of a renal tubule epithelial cell that projects into the luminal space of the tubules where it is thought to act as a flow sensor" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:17995581]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0011090 partial perinatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

Allelic Composition: Pkd1tm1Ggg/Pkd1+,Pkhd1tm1.1Ggg/Pkhd1tm1.1Ggg
Genetic Background: involves: 129S/SvEv * 129S4/SvJae * C57BL/6

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0011331 abnormal papillary duct morphology "any structural anomaly of the largest straight excretory ducts in the kidney medulla and papillae that are a continuation of the collecting tubules, and that open into the area cribosa" [ISBN:0-683-40008-8]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0011352 proximal convoluted tubule brush border loss "attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes" [MGI:anna]
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Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

 MP:0011359 decreased glomerular capillary number "reduced number of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles" [MGI:csmith]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0011427 mesangial cell hyperplasia "increased number of the phagocytic cells in the capillary tuft of the renal glomerulus, interposed between endothelial cells and the basement membrane in the central or stalk region of the tuft" [MGI:anna]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0011441 decreased kidney cell proliferation "decrease in the expansion rate of any kidney cell population by cell division" [MGI:anna]
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Allelic Composition: Itm2btm2.1Ldad/Itm2b+
Genetic Background: B6.129-Itm2btm2.1Ldad

 MP:0011501 increased glomerular capsule space "increased volume of the luminal region between the glomerular capsule visceral and parietal layers, into which filtrate enters after passing through the filtration barrier from the glomerular capillaries" [MGI:csmith]
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Allelic Composition: Pkhd1tm1Gwu/Pkhd1tm1Gwu
Genetic Background: Not Specified

 MP:0011682 renal glomerulus cysts "abnormal membranous sacs in any portion of the renal glomerulus" [MGI:csmith]
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Allelic Composition: Pkhd1tm1Sswi/Pkhd1tm1Sswi
Genetic Background: B6.Cg-Pkhd1tm1Sswi

 MP:0012238 abnormal cholangiocyte primary cilium morphology "any structural anomaly of the primary cilia found on the epithelial cells of the bile duct and extending from their apical membrane into the ductal lumen" [MGI:anna, PMID:18024594]
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Allelic Composition: Pkhd1tm1Cjwa/Pkhd1tm1Cjwa
Genetic Background: involves: 129S6/SvEvTac * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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