ENSMUSG00000030660


Mus musculus

Features
Gene ID: ENSMUSG00000030660
  
Biological name :Pik3c2a
  
Synonyms : phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha / Pik3c2a
  
Possible biological names infered from orthology : O00443
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: F1
Gene start: 116337265
Gene end: 116443449
  
Corresponding Affymetrix probe sets: 10567173 (MoGene1.0st)   1421023_at (Mouse Genome 430 2.0 Array)   1425862_a_at (Mouse Genome 430 2.0 Array)   1443655_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000145572
Ensembl peptide - ENSMUSP00000146181
Ensembl peptide - ENSMUSP00000145690
Ensembl peptide - ENSMUSP00000126092
NCBI entrez gene - 18704     See in Manteia.
MGI - MGI:1203729
RefSeq - XM_006507441
RefSeq - NM_011083
RefSeq - XM_006507440
RefSeq Peptide - NP_035213
swissprot - A0A0U1RNT0
swissprot - F8VPL2
swissprot - A0A0U1RNH9
Ensembl - ENSMUSG00000030660
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pik3c2aENSDARG00000060841Danio rerio
 PIK3C2AENSGALG00000006121Gallus gallus
 O00443ENSG00000011405Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Pik3c2b / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta / O00750*ENSMUSG0000002644744
Pik3c2g / phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit gamma isoform 2 / O75747* / phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma*ENSMUSG0000003022823
Pik3cg / Q9JHG7 / Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform / P48736* / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma*ENSMUSG0000002057318
O35904 / Pik3cd / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta / O00329*ENSMUSG0000003993617
Pik3cb / Q8BTI9 / Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform / P42338* / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta*ENSMUSG0000003246216
P42337 / Pik3ca / Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform / P42336* / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha*ENSMUSG0000002766516
Pik3c3 / Q6PF93 / Phosphatidylinositol 3-kinase catalytic subunit type 3 / Q8NEB9*ENSMUSG0000003362812


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR000341  Phosphatidylinositol 3-kinase Ras-binding (PI3K RBD) domain
 IPR000403  Phosphatidylinositol 3-/4-kinase, catalytic domain
 IPR001263  Phosphoinositide 3-kinase, accessory (PIK) domain
 IPR001683  Phox homologous domain
 IPR002420  Phosphatidylinositol 3-kinase, C2 domain
 IPR011009  Protein kinase-like domain superfamily
 IPR015433  Phosphatidylinositol kinase
 IPR016024  Armadillo-type fold
 IPR018936  Phosphatidylinositol 3/4-kinase, conserved site
 IPR029071  Ubiquitin-like domain superfamily
 IPR035892  C2 domain superfamily
 IPR036871  PX domain superfamily
 IPR036940  Phosphatidylinositol 3-/4-kinase, catalytic domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:0048015 phosphatidylinositol-mediated signaling IEA
 biological_processGO:0090050 positive regulation of cell migration involved in sprouting angiogenesis IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0031982 vesicle IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0035004 phosphatidylinositol 3-kinase activity IEA
 molecular_functionGO:0035091 phosphatidylinositol binding IEA


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0000218 increased WBC count "greater than normal WBC numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0000219 increased neutrophil count "greater than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

Allelic Composition: Pik3c2atm1b(EUCOMM)Hmgu/Pik3c2a+
Genetic Background: C57BL/6N-Pik3c2atm1b(EUCOMM)Hmgu/Tcp

 MP:0000220 increased monocyte count "greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0000228 abnormal thrombopoiesis "abnormal development of the non-nucleated cells of the blood (platelets, thrombocytes) involved in blood coagulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0000322 increased granulocyte number "greater than expected number of leukocytes that have abundant granules in the cytoplasm: basophils, neutrophils, or eosinophils" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Padi6tm1b(KOMP)Wtsi/Padi6tm1b(KOMP)Wtsi
Genetic Background: C57BL/6N-Padi6tm1b(KOMP)Wtsi/Ucd

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 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: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0001566 hyperphosphatemia "abnormally high concentrations of phosphates in the circulating blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0001697 abnormal embryo size "anomalous proportions of embryo compared to littermates" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 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: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 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: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 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: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 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: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002417 abnormal megakaryocyte morphology/development "anomalous structure or formation of the very large cells found in the bone marrow that release platelets" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002493 increased IgG "greater than normal immunoglobulin class G level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002494 increased IgM "greater than normal immunoglobulin class M level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002495 increased IgA "greater than normal immunoglobulin class A level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002551 abnormal blood coagulation "altered ability or inability of the blood to clot" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002599 increased mean platelet volume "increased content of platelet cells over the norm" [cml:Cathleen M. Lutz, Mouse Genome Informatics Curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 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: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0002743 glomerulonephritis "glomerular disease characterized by diffuse inflammatory reaction that is not the acute response to infection of the kidneys" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002875 decreased erythrocyte count "reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0002989 small kidney "reduced physical bulk one or both of the organs responsible for urine secretion" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0003232 abnormal forebrain development "anomaly in the formation or patterning of the anterior primitive cerebral vesicle; most rostral of three primary vesicles of the embryonic neural tube" [J:93081, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0003405 abnormal platelet shape 
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0003720 abnormal neural tube closure "abnormal invagination and fusion of the neuroepithelial layer in early development" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:99099]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0003864 abnormal midbrain development "anomaly in the formation of or the patterning of the part of the brainstem developing from the middle of the three primary cerebral vesicles of the embryo" [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: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0003950 abnormal plasma membrane morphology "anomalous structure of the semipermeable membrane that encloses the cytoplasm of a cell" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0003961 decreased lean body mass "less than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0004086 absent heartbeat "lack of a spontaneously beating heart (usually due to defects in the calcium delivery mechanism or loss of a functional contractile apparatus)" [J:69362, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0004720 abnormal platelet morphology "any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0004762 increased anti-double stranded DNA antibody level "increase in the level of antibodies that recognize double stranded DNA" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pik3c2atm1b(EUCOMM)Hmgu/Pik3c2a+
Genetic Background: C57BL/6N-Pik3c2atm1b(EUCOMM)Hmgu/Tcp

 MP:0004969 pale kidney "kidney lacks normal reddish coloration; often occurs with a bloodless or reduced vasculature condition" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005014 increased B cell number "greater than normal B cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005016 decreased lymphocyte number "fewer than normal white blood cell numbers " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pik3c2atm1b(EUCOMM)Hmgu/Pik3c2a+
Genetic Background: C57BL/6N-Pik3c2atm1b(EUCOMM)Hmgu/Tcp

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005264 glomerulosclerosis "hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005325 abnormal glomerulus "anomalous structure of the capillary loops of the kidney that normally function as a filtration unit" [J:57971, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005326 abnormal podocytes "anomalous structure of the foot processes of the epithelial cells of the glomerulus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57971]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005464 abnormal platelet physiology "atypical response of the non-nucleated cells found in the blood and involved in blood coagulation" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0005505 increased platelet count "greater than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005553 increased circulating creatinine level "greater than the normal blood concentration of this product of creatine catabolism; abnormal levels indicative of renal dysfunction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005558 decreased creatinine clearance "less than the normal amount of this creatine metabolite filtered by the kidneys in a specific period of time; indicative of kidney function" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, RGD:Rat Genome Database submission]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 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: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005627 increased circulating potassium level "greater than the normal concentration in the blood of this alkaline metallic element, the most abundant intracellular ion; anomalies in the extracellular (circulating) concentration have important implications for the function of excitable tissues, such as nerve and muscle" [RGD:Rat Genome Database submission]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0005635 decreased circulating bilirubin level "less thant the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0006108 abnormal hindbrain development "anomaly in the formation or pattering of the caudal region of the brain" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93573]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0008074 increased CD4-positive T cell number "greater number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0008078 increased CD8-positive T cell number "greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0008140 podocyte foot process effacement "thinning of the footlike extension of podocytes that interdigitate with one another to form the walls of the glomerular capillaries" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [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: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0011100 complete preweaning lethality "death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0011353 expanded mesangial matrix "increase in the amount of mesangial matrix present in the basement membrane surrounding the glomerular capillaries that also contain the intraglomerular mesangial cells" [MGI:csmith]
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Allelic Composition: Dchs1tm1.2Irv/Dchs1tm1.2Irv,Fat4tm1.1Hmc/Fat4tm1.1Hmc
Genetic Background: involves: 129 * C57BL/6 * CBA

 MP:0013292 embryonic lethality prior to organogenesis "death prior to the completion of embryo turning (Mus: E9-9.5)" [MGI:smb]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0013293 embryonic lethality prior to tooth bud stage "death prior to the appearance of tooth buds (Mus: E12-E12.5)" [MGI:smb]
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Allelic Composition: Pdgfrbtm1b(EUCOMM)Hmgu/Pdgfrb+
Genetic Background: C57BL/6N-Pdgfrbtm1b(EUCOMM)Hmgu/H

 MP:0014060 abnormal platelet alpha-granule morphology "any structural anomaly of the most abundant secretory organelle found in blood platelets, and which store adhesive molecules such as von Willebrand factor and fibrinogen, growth factors and inflammatory and angiogenic mediators, which play crucial roles in inflammatory responses and tumor genesis" [PMID:26391322]
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

 MP:0020431 decreased platelet alpha-granule number "decreased number of platelet alpha-granules" []
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Allelic Composition: Nfkb1tm1a(KOMP)Wtsi/Nfkb1tm1a(KOMP)Wtsi
Genetic Background: involves: C57BL/6 * C57BL/6N

  


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






 

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