ENSMUSG00000034462


Mus musculus

Features
Gene ID: ENSMUSG00000034462
  
Biological name :Pkd2
  
Synonyms : O35245 / Pkd2 / Polycystin-2
  
Possible biological names infered from orthology : polycystin 2, transient receptor potential cation channel / Q13563
  
Species: Mus musculus
  
Chr. number: 5
Strand: 1
Band: E5
Gene start: 104459450
Gene end: 104505819
  
Corresponding Affymetrix probe sets: 10523727 (MoGene1.0st)   1417753_at (Mouse Genome 430 2.0 Array)   1441870_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000084041
NCBI entrez gene - 18764     See in Manteia.
MGI - MGI:1099818
RefSeq - NM_008861
RefSeq - XM_006534815
RefSeq Peptide - NP_032887
swissprot - O35245
Ensembl - ENSMUSG00000034462
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pkd2ENSDARG00000014098Danio rerio
 PKD2ENSGALG00000010921Gallus gallus
 PKD2ENSG00000118762Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
A2A259 / Pkd2l1 / Polycystic kidney disease 2-like 1 protein / Q9P0L9* / polycystin 2 like 1, transient receptor potential cation channel*ENSMUSG0000003757839
Pkd2l2 / Q9JLG4 / Polycystic kidney disease 2-like 2 protein / Q9NZM6* / polycystin 2 like 2, transient receptor potential cation channel*ENSMUSG0000001450329
Pkd1l2ENSMUSG0000003441619
Pkd1 / O08852 / Polycystin-1 / P98161* / polycystin 1, transient receptor potential channel interacting*ENSMUSG0000003285516
Pkd1l3 / Q2EG98 / Polycystic kidney disease protein 1-like 3 / Q7Z443* / polycystin 1 like 3, transient receptor potential channel interacting*ENSMUSG0000004882714
Pkdrej / polycystin family receptor for egg jelly / Q9NTG1*ENSMUSG0000005249614
Pkd1l1 / polycystin 1 like 1, transient receptor potential channel interacting / Q8TDX9*ENSMUSG0000004663413


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR003915  Polycystic kidney disease type 2 protein
 IPR011992  EF-hand domain pair
 IPR013122  Polycystin cation channel, PKD1/PKD2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001658 branching involved in ureteric bud morphogenesis IEA
 biological_processGO:0001822 kidney development IMP
 biological_processGO:0001889 liver development IEA
 biological_processGO:0001892 embryonic placenta development IMP
 biological_processGO:0001947 heart looping IEA
 biological_processGO:0003127 detection of nodal flow IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0006816 calcium ion transport ISO
 biological_processGO:0006874 cellular calcium ion homeostasis IMP
 biological_processGO:0007050 cell cycle arrest IDA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007259 JAK-STAT cascade IDA
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007507 heart development IEA
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0021510 spinal cord development IEA
 biological_processGO:0021915 neural tube development IEA
 biological_processGO:0030814 obsolete regulation of cAMP metabolic process IMP
 biological_processGO:0031587 positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity IEA
 biological_processGO:0031659 positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0035502 metanephric part of ureteric bud development IEA
 biological_processGO:0035725 sodium ion transmembrane transport IEA
 biological_processGO:0035904 aorta development IEA
 biological_processGO:0042127 regulation of cell proliferation IEA
 biological_processGO:0042994 cytoplasmic sequestering of transcription factor IEA
 biological_processGO:0045429 positive regulation of nitric oxide biosynthetic process IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0050982 detection of mechanical stimulus IMP
 biological_processGO:0051209 release of sequestered calcium ion into cytosol IEA
 biological_processGO:0051289 protein homotetramerization IEA
 biological_processGO:0060315 negative regulation of ryanodine-sensitive calcium-release channel activity IDA
 biological_processGO:0060674 placenta blood vessel development IMP
 biological_processGO:0061333 renal tubule morphogenesis IMP
 biological_processGO:0061441 renal artery morphogenesis IEA
 biological_processGO:0070588 calcium ion transmembrane transport ISO
 biological_processGO:0071158 positive regulation of cell cycle arrest IEA
 biological_processGO:0071277 cellular response to calcium ion IMP
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0071464 cellular response to hydrostatic pressure IEA
 biological_processGO:0071470 cellular response to osmotic stress IEA
 biological_processGO:0071498 cellular response to fluid shear stress IMP
 biological_processGO:0071805 potassium ion transmembrane transport ISO
 biological_processGO:0071910 determination of liver left/right asymmetry IEA
 biological_processGO:0072001 renal system development IGI
 biological_processGO:0072075 metanephric mesenchyme development IEA
 biological_processGO:0072164 mesonephric tubule development IEA
 biological_processGO:0072177 mesonephric duct development IEA
 biological_processGO:0072208 metanephric smooth muscle tissue development IEA
 biological_processGO:0072214 metanephric cortex development IEA
 biological_processGO:0072218 metanephric ascending thin limb development IEA
 biological_processGO:0072219 metanephric cortical collecting duct development IEA
 biological_processGO:0072235 metanephric distal tubule development IEA
 biological_processGO:0072284 metanephric S-shaped body morphogenesis IEA
 biological_processGO:0090279 regulation of calcium ion import IEA
 biological_processGO:2000134 negative regulation of G1/S transition of mitotic cell cycle IEA
 cellular_componentGO:0002133 polycystin complex IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005789 endoplasmic reticulum membrane ISO
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0005929 cilium IMP
 cellular_componentGO:0009925 basal plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0030027 lamellipodium IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031514 motile cilium IDA
 cellular_componentGO:0031941 filamentous actin IEA
 cellular_componentGO:0036064 ciliary basal body IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0045180 basal cortex IDA
 cellular_componentGO:0060170 ciliary membrane IMP
 cellular_componentGO:0071458 integral component of cytoplasmic side of endoplasmic reticulum membrane IEA
 cellular_componentGO:0071556 integral component of lumenal side of endoplasmic reticulum membrane IEA
 cellular_componentGO:0072686 mitotic spindle IDA
 cellular_componentGO:0097730 non-motile cilium IDA
 molecular_functionGO:0005102 signaling receptor binding IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity ISO
 molecular_functionGO:0005245 voltage-gated calcium channel activity IEA
 molecular_functionGO:0005248 voltage-gated sodium channel activity IEA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IEA
 molecular_functionGO:0005262 calcium channel activity TAS
 molecular_functionGO:0005267 potassium channel activity ISO
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008092 cytoskeletal protein binding IEA
 molecular_functionGO:0015267 channel activity IMP
 molecular_functionGO:0015271 outward rectifier potassium channel activity IMP
 molecular_functionGO:0022843 voltage-gated cation channel activity IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0042805 actinin binding IEA
 molecular_functionGO:0043398 HLH domain binding IEA
 molecular_functionGO:0044325 ion channel binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0048763 calcium-induced calcium release activity IEA
 molecular_functionGO:0051117 ATPase binding IPI
 molecular_functionGO:0051219 phosphoprotein binding IEA
 molecular_functionGO:0051371 muscle alpha-actinin binding IEA
 molecular_functionGO:0051393 alpha-actinin binding IEA


Pathways (from Reactome)
Pathway description
VxPx cargo-targeting to cilium


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: either: B6SJL.129-Chrdtm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J)

 MP:0000269 abnormal looping morphogenesis "atypical bending of the primitive heart tube during early development" [J:27443]
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Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0000522 cysts in kidney cortex "abnormal membranous sacs appearing in the renal lobules, tubules and glomeruli" [J:50844]
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Allelic Composition: Brca1tm2Cxd/Brca1tm2Cxd
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0000531 right pulmonary isomerism "bilaterally symmetric right lung pattern (or altered asymmetric patterning of the lung)" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator, J:58530]
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Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: involves: BALB/cAnN * C3H/HeH

Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: C3.CAnN-Pkd2lrm4

 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: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: either: B6SJL.129-Chrdtm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J)

 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: Gpc3Gt(Ex136)Byg/Gpc3Gt(Ex136)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0000644 dextrocardia "cardiac apex pointing to the right as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: involves: BALB/cAnN * C3H/HeH

Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.2Tjwt,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: C3.CAnN-Pkd2lrm4

 MP:0000650 mesocardia "cardiac apex pointing to the middle as opposed to the normal levocardia" [ava:Anna V. Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: involves: BALB/cAnN * C3H/HeH

 MP:0000690 absent spleen "missing organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:55583]
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Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: either: B6SJL.129-Chrdtm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J)

 MP:0001176 abnormal lung development "malformation or arrest of differentiation of the organs of respiration" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: either: B6SJL.129-Chrdtm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J)

 MP:0001270 distended abdomen "abdomen appears curved outward or swollen; can be due to skeletal axial defects, enlarged visceral organs or megacolon" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ctsktm1(cre)Ska/Ctsk+,Snx10tm1c(EUCOMM)Raba/Snx10tm1c(EUCOMM)Raba
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001706 abnormal left-right axis patterning "anomaly in the formation or development of the body or a specific organ of the body in relation to the left and right sides of the body or organ" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Chrdtm1Emdr/Chrdtm1Emdr
Genetic Background: either: B6SJL.129-Chrdtm1Emdr or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL/J)

Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: C3.CAnN-Pkd2lrm4

 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: Gpc3Gt(Ex136)Byg/Gpc3Gt(Ex136)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001785 edema "an accumulation of an excessive amount of watery fluid in cells or intercellular tissues" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54065]
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Allelic Composition: Dnah11lrm5/Dnah11lrm5
Genetic Background: involves: BALB/cAnN * C3H/HeH

Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.2Tjwt,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: C3.CAnN-Pkd2lrm4

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Pkd2tm1Som/Pkd2+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.1Tjwt,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6 * SJL

 MP:0001944 abnormal pancreas morphology "malformation of the organ that secretes pancreatic juice into the duodenum and secretes glucagon and insulin into the bloodstream" [il:Ira Lu , Mouse Genome Informatics Curator]
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Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0002058 neonatal lethality "death of animal within one day after birth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.2Tjwt,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6 * SJL

 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: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0002135 abnormal kidney morphology "abnormal development of the kidney resulting in structural abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ctsktm1(cre)Ska/Ctsk+,Snx10tm1c(EUCOMM)Raba/Snx10tm1c(EUCOMM)Raba
Genetic Background: involves: 129S4/SvJae * C57BL/6 * C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 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: Pcid2tm1Imku/Pcid2tm1Imku,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Pkd1l1rks/Pkd1l1+,Pkd2lrm4/Pkd2+
Genetic Background: C3.Cg-Pkd2lrm4 Pkd1l1rks

 MP:0002192 hydrops fetalis "an abnormal accumulation of serous fluid in fetal tissues" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pkd2tm1Som/Pkd2+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 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: Gpc3Gt(Ex136)Byg/Gpc3Gt(Ex136)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

 MP:0002766 situs inversus "lateral transposition of the viscera of the thorax and abdomen, sometimes incomplete" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: involves: BALB/cAnN * C3H/HeH

Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.2Tjwt,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0002767 situs ambiguus "abnormal organ position" [J:62608]
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Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * 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: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0003178 left pulmonary isomerism "bilaterally symmetric left lung pattern (or altered asymmetric patterning of the lung)" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93051]
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Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: involves: BALB/cAnN * C3H/HeH

 MP:0003231 abnormal placental vasculature "malformation in the vessels of the placenta" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
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Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.1Tjwt,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6 * SJL

 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: Gpc3Gt(Ex136)Byg/Gpc3Gt(Ex136)Byg
Genetic Background: involves: 129P2/OlaHsd * 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: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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: Brca1tm2Cxd/Brca1tm2Cxd
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

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

Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd1tm1Som/Pkd1+,Pkd2tm2Som/Pkd2+
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

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

Allelic Composition: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

 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: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0003336 pancreatic cysts "the appearance of fluid-filled sacs within the pancreas" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.2Tjwt,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6 * SJL

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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: Brca1tm2Cxd/Brca1tm2Cxd
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

Allelic Composition: Pkd2tm1Som/Pkd2+
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

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

Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

Allelic Composition: Pkd1tm1Som/Pkd1+,Pkd2tm2Som/Pkd2+
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

Allelic Composition: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

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

Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Hdac5tm1Eno/Hdac5+,Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.2Tjwt,Meox2tm1(cre)Sor/Meox2+
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pkd2tm2Som/Pkd2+,Prkcshtm1Som/Prkcshtm1Som,Tg(Cdh16-cre)91Igr/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Allelic Composition: Pkd2tm3Som/Pkd2tm3Som,Tg(Pdk1)248Som/0,Tg(Pkhd1-cre)1Igr/0
Genetic Background: involves: C57BL/6J * SJL/J

Allelic Composition: Pkd2tm2Som/Pkd2+,Sec63tm1Som/Sec63tm1Som,Tg(Cdh16-cre)91Igr/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

 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: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm2Som/Pkd2+,Prkcshtm1Som/Prkcshtm1Som,Tg(Cdh16-cre)91Igr/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm2Som/Pkd2+
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm1Som/Pkd2+
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0004020 polyhydramnios "abnormally high amniotic fluid volume; may result from maternal diabetes, chromosomal abnormalities or other congenital abnormalities" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1.1Tjwt/Pkd2tm1.1Tjwt,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6 * SJL

 MP:0004066 abnormal Henson s node morphology "malformation of cells in the small pit at the anterior end of the primitive streak that are important in determining left-right asymmetry" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm1Sia/Pkd2tm1Sia
Genetic Background: Not Specified

 MP:0004190 abnormal direction of embryo turning "axial rotation of the embryo in a direction other than the normal anticlockwise direction when viewed towards the caudal pole during the late primitive streak/early somite stage (Mus E8.5-E9.5); clockwise rotation is frequently associated with heart and visceral defects" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development"]
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Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: C3.CAnN-Pkd2lrm4

 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: Rab38em1Rkuhn/Rab38em1Rkuhn
Genetic Background: involves: C57BL/6JCrl * FVB/NCrl

 MP:0005312 pericardial effusion "escape of fluid from blood vessels or lymphatics into the fibrous sac surrounding the heart" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0005565 increased blood urea nitrogen level "high circulating concentration of nitrogen, in the form of urea; commonly used to measure renal function" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2tm2Som/Pkd2+,Prkcshtm1Som/Prkcshtm1Som,Tg(Cdh16-cre)91Igr/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Allelic Composition: Pkd2tm2Som/Pkd2+,Sec63tm1Som/Sec63tm1Som,Tg(Cdh16-cre)91Igr/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * ICR * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm2Som/Pkd2+
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm1Som/Pkd2+
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0008528 polycystic kidney "the development of innumerable cysts in the kidneys filled with fluid replacing much of the mass of the kidneys leading to reduction in kidney function and frequently kidney failure" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Pkd2m1Btlr/Pkd2m1Btlr
Genetic Background: C57BL/6J-Pkd2m1Btlr

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm2Som/Pkd2+
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm1Som/Pkd2+
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1tm1.1Pcha,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0008803 abnormal placental labyrinth vasculature morphology "any structural anomaly in blood vessels of the layer of the placenta where embryonic and maternal blood vessels interdigitate" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

 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: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

 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:0010402 ventricular septal defect "abnormal communications between the two lower chambers of the heart, including such defects in the perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular regions" [MESH:C14.240.400.560.540]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0010403 atrial septal defect "abnormal communications between the two upper chambers of the heart, including such defects in any or all of the ostium primum, ostium secundum, sinus venosus, and coronary sinus regions" [MESH:C14.240.400.560.375]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0010439 abnormal hepatic vein morphology "any structural anomaly of the veins that drain blood from the liver and terminate in three large openings to the inferior vena cava below the diaphragm and into smaller openings in more inferior positions" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

 MP:0010807 abnormal stomach position or orientation "the stomach is displaced from the normal left-sided position and/or orientation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: involves: BALB/cAnN * C3H/HeH

 MP:0010808 right-sided stomach "stomach is present on the right side of the body instead of the left" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: C3.CAnN-Pkd2lrm4

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Pcid2tm1Imku/Pcid2tm1Imku,Cd19tm1(cre)Cgn/Cd19+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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: Pkd2tm1.1Tjwt/Pkd2tm1.1Tjwt,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Pkd2tm1Dwo/Pkd2tm1Dwo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

Allelic Composition: Hdac5tm1Eno/Hdac5tm1Eno,Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * SJL

Allelic Composition: Pkd2tm1.2Tjwt/Pkd2tm1.2Tjwt
Genetic Background: involves: 129S/Sv * 129X1/SvJ * C57BL/6 * SJL

Allelic Composition: Pkd2lrm4/Pkd2lrm4
Genetic Background: C3.CAnN-Pkd2lrm4

Allelic Composition: Pkd2tm1Sia/Pkd2tm1Sia
Genetic Background: Not Specified

 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: Pkd2tm1.1Tjwt/Pkd2tm1.1Tjwt,Tg(Tek-cre)1Ywa/0
Genetic Background: involves: 129S/SvEv * 129X1/SvJ * C57BL/6 * SJL

 MP:0011108 partial embryonic lethality during organogenesis "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 embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: Pkd2tm1Sia/Pkd2tm1Sia
Genetic Background: Not Specified

 MP:0011307 kidney medulla cysts "abnormal membranous sacs appearing in the inner portion of the kidney which consists of the renal pyramids" [MGI:anna]
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Allelic Composition: Brca1tm2Cxd/Brca1tm2Cxd
Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

 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: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

 MP:0011368 increased kidney apoptosis "increase in the number of cells of the kidney undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0011440 increased kidney cell proliferation "increase in the expansion rate of any kidney cell population by cell division" [MGI:anna]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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: Pkd2tm1Gwu/Pkd2tm1Gwu
Genetic Background: involves: C57BL/6

 MP:0012172 abnormal amniotic fluid composition "any alteration in the expected chemical makeup of the watery liquid within the amnion that surrounds and cushions a growing fetus; normally, early in gestation, amniotic fluid is similar to maternal plasma, mainly water with electrolytes, and later in gestation, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid" [MGI:anna]
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Allelic Composition: Pkd2tm2Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0012236 abnormal cholangiocyte morphology "any structural anomaly of the epithelial cells of the bile duct that have primary cilia extending from their apical membrane into the ductal lumen; cholangiocytes are cuboidal epithelium in the small interlobular bile ducts, but become columnar and mucus secreting in larger bile ducts approaching the porta hepatis and the extrahepatic ducts" [PMID:22961800]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 MP:0012237 increased cholangiocyte apoptosis "increase in the number of epithelial cells of the bile duct undergoing programmed cell death" [MGI:anna]
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Allelic Composition: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

 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: Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129/Sv * C57BL/6J * SJL

  


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






 

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