ENSMUSG00000023013


Mus musculus

Features
Gene ID: ENSMUSG00000023013
  
Biological name :Aqp2
  
Synonyms : Aqp2 / Aquaporin-2 / P56402
  
Possible biological names infered from orthology : P41181
  
Species: Mus musculus
  
Chr. number: 15
Strand: 1
Band: F1
Gene start: 99579055
Gene end: 99584547
  
Corresponding Affymetrix probe sets: 10426760 (MoGene1.0st)   1418903_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000023752
NCBI entrez gene - 11827     See in Manteia.
MGI - MGI:1096865
RefSeq - NM_009699
RefSeq Peptide - NP_033829
swissprot - P56402
swissprot - Q3UQD4
Ensembl - ENSMUSG00000023013
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 AQP2ENSGALG00000037878Gallus gallus
 AQP2ENSG00000167580Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Aqp5 / Q9WTY4 / Aquaporin-5 / P55064*ENSMUSG0000004421763
Mip / P51180 / Lens fiber major intrinsic protein / P30301* / major intrinsic protein of lens fiber*ENSMUSG0000002538957
Aqp6 / Q8C4A0 / Aquaporin-6 / Q13520*ENSMUSG0000004314454
Aqp4 / aquaporin-4 isoform M1x / P55087* / aquaporin 4*ENSMUSG0000002441145
Aqp1 / Q02013 / Aquaporin-1 / P29972* / AC004691.2* / aquaporin 1 (Colton blood group)*ENSMUSG0000000465542
Aqp8 / P56404 / Aquaporin-8 / O94778*ENSMUSG0000003076226


Protein motifs (from Interpro)
Interpro ID Name
 IPR000425  Major intrinsic protein
 IPR022357  Major intrinsic protein, conserved site
 IPR023271  Aquaporin-like
 IPR034294  Aquaporin transporter


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0003097 renal water transport IMP
 biological_processGO:0006833 water transport IEA
 biological_processGO:0015793 glycerol transport IEA
 biological_processGO:0034220 ion transmembrane transport IBA
 biological_processGO:0042631 cellular response to water deprivation IDA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0071280 cellular response to copper ion IEA
 biological_processGO:0071288 cellular response to mercury ion IEA
 biological_processGO:0072205 metanephric collecting duct development IEP
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane ISO
 cellular_componentGO:0016021 integral component of membrane ISM
 cellular_componentGO:0016323 basolateral plasma membrane IEA
 cellular_componentGO:0016324 apical plasma membrane ISS
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031303 integral component of endosome membrane IC
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0046930 pore complex IEA
 cellular_componentGO:0055037 recycling endosome IDA
 cellular_componentGO:0055038 recycling endosome membrane IC
 cellular_componentGO:0070062 extracellular exosome IEA
 molecular_functionGO:0005372 water transmembrane transporter activity IEA
 molecular_functionGO:0015168 glycerol transmembrane transporter activity IEA
 molecular_functionGO:0015250 water channel activity ISO
 molecular_functionGO:0015267 channel activity IEA
 molecular_functionGO:0015288 porin activity IEA


Pathways (from Reactome)
Pathway description
Vasopressin regulates renal water homeostasis via Aquaporins
Passive transport by Aquaporins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0000519 hydronephrosis "dilation of the pelvis and calices of one or both kidneys" [J:56641]
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Allelic Composition: Sptbn4qv-lnd/Sptbn4qv-lnd
Genetic Background: B6.B10-Sptbn4qv-lnd

Allelic Composition: Aqp2tm1Nlsn/Aqp2tm1Nlsn,Tg(Hoxb7-cre)13Amc/0
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Aqp2tm1.1Nlsn/Aqp2tm1.1Nlsn
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000536 hydroureter "distention of the ureter with urine, due to blockage from any cause" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:Cml, J:13044]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1Bxy/Aqp2tm1Bxy,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0000538 abnormal urinary bladder morphology "malformation of the inflatable musculomembranous bag for holding urine" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hprttm1Dhm/Y,Plntm1Egk/Plntm1Egk
Genetic Background: involves: 129P2/OlaHsd * 129S2/SvPas

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Mc4rY302C/Mc4rY302C
Genetic Background: involves: C3HeB/FeJ * C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 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: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0001426 polydipsia "excessive thirst that is relatively prolonged" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Sptbn4qv-lnd/Sptbn4qv-lnd
Genetic Background: B6.B10-Sptbn4qv-lnd

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
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Allelic Composition: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001510 abnormal coat appearance "coat that looks different from the usual state " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Aqp2tm1Nlsn/Aqp2tm1Nlsn,Tg(Hoxb7-cre)13Amc/0
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0001762 polyuria "increased volume of urine produced and excreted" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2F204V/Aqp2F204V
Genetic Background: C57BL/6-Aqp2F204V

Allelic Composition: Aqp2tm1Nlsn/Aqp2tm1Nlsn,Tg(Hoxb7-cre)13Amc/0
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1Bxy/Aqp2tm1Bxy,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Aqp2tm1(AQP2)Suc/Aqp2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 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: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2tm1.1Ask/Aqp2tm1.1Ask
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Sptbn4qv-lnd/Sptbn4qv-lnd
Genetic Background: B6.B10-Sptbn4qv-lnd

 MP:0002608 increased hematocrit "greater than average percentage of a volume of a blood sample occupied by red blood cells" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: 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: Aqp2tm1.1Ask/Aqp2tm1.1Ask
Genetic Background: involves: C57BL/6J * FVB/N

 MP:0002987 abnormal urine osmolarity "changes in the concentration of ions in the urine compared to normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:83000]
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Allelic Composition: Aqp2tm1Bxy/Aqp2tm1Bxy,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002988 decreased urine osmolarity "reduction in the concentration of ions in the urine compared to normal" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:83000]
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Allelic Composition: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2tm1.1Ask/Aqp2tm1.1Ask
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Aqp2F204V/Aqp2F204V
Genetic Background: C57BL/6-Aqp2F204V

Allelic Composition: Aqp2tm1Nlsn/Aqp2tm1Nlsn,Tg(Hoxb7-cre)13Amc/0
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Aqp2tm1Bxy/Aqp2tm1Bxy,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Aqp2tm1(AQP2)Suc/Aqp2+
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003014 abnormal kidney medulla morphology "anomalous structure of the inner portion of the kidney consisting of the renal pyramids" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:88636, smb:Susan M. Bello , Mouse Genome Informatics Curator]
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Allelic Composition: Aqp2tm1.1Ask/Aqp2tm1.1Ask
Genetic Background: involves: C57BL/6J * FVB/N

 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: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0003853 dry skin "skin characterized by the lack of natural or normal moisture" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004192 abnormal kidney pyramid morphology "any structural anomaly of the conical mass of tissue, containing part of the secreting and collecting tubules, whose base faces the renal cortex" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0004194 abnormal kidney pelvis morphology "any structural anomaly of the funnel shaped proximal portion of the ureter that is formed by convergence of the major calices" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 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: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1Bxy/Aqp2tm1Bxy,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0005202 lethargy "mild impairment of consciousness resulting in reduced alertness and awareness; ultimately due to generalized brain dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 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: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2tm1.1Ask/Aqp2tm1.1Ask
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008997 increased blood osmolality "increase in the concentration of ions in the blood compared to the normal state" [MGI:hdene "Howard Dene, Mouse Genome Informatics Curator"]
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Allelic Composition: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0009643 abnormal urine homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions and chemical or protein composition of the urine" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2tm1.1Ask/Aqp2tm1.1Ask
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Aqp2tm1.1Nlsn/Aqp2tm1.1Nlsn
Genetic Background: involves: 129/Sv * C57BL/6

 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: Aqp2tm1Nlsn/Aqp2tm1Nlsn,Tg(Hoxb7-cre)13Amc/0
Genetic Background: involves: 129/Sv * C57BL/6

 MP:0011304 kidney papillary atrophy "acquired diminution of the size of the apex (tip) of a renal pyramid associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2tm1.1Ask/Aqp2tm1.1Ask
Genetic Background: involves: C57BL/6J * FVB/N

Allelic Composition: Aqp2tm1Nlsn/Aqp2tm1Nlsn,Tg(Hoxb7-cre)13Amc/0
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Aqp2tm1.1Nlsn/Aqp2tm1.1Nlsn
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1(cre)Blyg/Aqp2tm1(cre)Blyg
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011305 dilated kidney calyx "an expansion in the lumen volume or area of any of the branches of the renal pelvis that surround each renal papilla and collect urine" [MGI:anna]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 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: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

 MP:0011413 colorless urine "absence of the usual straw-coloration of the urine" [MGI:anna]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0011422 kidney medulla atrophy "acquired diminution of the size of the inner portion of the kidney consisting of the renal pyramids, associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Nox3het-4J/Nox3het-4J
Genetic Background: C57BL/6J-Nox3het-4J/J

Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

Allelic Composition: Aqp2tm1Bxy/Aqp2tm1Bxy,Tg(CAG-cre/Esr1*)5Amc/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0011492 ureterovesical junction obstruction "a partial or total blockage of the valve-like structure found at the site of entry of the ureter into the urinary bladder" [MGI:anna]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

 MP:0011844 kidney collecting duct atrophy "acquired diminution of the size of the kidney collecting ducts associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Aqp2cph/Aqp2cph
Genetic Background: C57BL/6J-Aqp2cph

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000005469 P05132 / Prkaca / protein kinase, cAMP dependent, catalytic, alpha / P17612* / protein kinase cAMP-activated catalytic subunit alpha*  / reaction
 ENSMUSG00000005034 P68181 / Prkacb / protein kinase, cAMP dependent, catalytic, beta / P22694* / protein kinase cAMP-activated catalytic subunit beta*  / reaction
 ENSMUSG00000023013 Aqp2 / P56402 / Aquaporin-2 / P41181*  / complex






 

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