ENSMUSG00000025949


Mus musculus

Features
Gene ID: ENSMUSG00000025949
  
Biological name :Pikfyve
  
Synonyms : phosphoinositide kinase, FYVE type zinc finger containing / Pikfyve / Q9Z1T6
  
Possible biological names infered from orthology : Q9Y2I7
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: C2
Gene start: 65186683
Gene end: 65278695
  
Corresponding Affymetrix probe sets: 10346970 (MoGene1.0st)   1422994_at (Mouse Genome 430 2.0 Array)   1446974_at (Mouse Genome 430 2.0 Array)   1452994_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000140204
Ensembl peptide - ENSMUSP00000140932
Ensembl peptide - ENSMUSP00000079926
Ensembl peptide - ENSMUSP00000095314
NCBI entrez gene - 18711     See in Manteia.
MGI - MGI:1335106
RefSeq - XM_006495782
RefSeq - NM_001310624
RefSeq - NM_011086
RefSeq - XM_006495776
RefSeq - XM_006495777
RefSeq - XM_006495779
RefSeq - XM_006495781
RefSeq Peptide - NP_001297553
RefSeq Peptide - NP_035216
swissprot - D3Z5N5
swissprot - A0A087WS78
swissprot - Q9Z1T6
swissprot - A0A087WQI1
Ensembl - ENSMUSG00000025949
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pikfyveENSDARG00000056112Danio rerio
 PIKFYVEENSGALG00000008842Gallus gallus
 Q9Y2I7ENSG00000115020Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q80U44 / Zfyve16 / zinc finger, FYVE domain containing 16 / Q7Z3T8* / zinc finger FYVE-type containing 16*ENSMUSG000000217069
Zfyve9 / zinc finger, FYVE domain containing 9 / O95405* / zinc finger FYVE-type containing 9*ENSMUSG000000345579
Q6ZPK7 / Zfyve28 / zinc finger, FYVE domain containing 28 / Q9HCC9* / zinc finger FYVE-type containing 28*ENSMUSG000000372244
Q8VCM3 / Zfyve21 / zinc finger, FYVE domain containing 21 / Q9BQ24* / zinc finger FYVE-type containing 21*ENSMUSG000000212863


Protein motifs (from Interpro)
Interpro ID Name
 IPR000306  FYVE zinc finger
 IPR000591  DEP domain
 IPR002423  Chaperonin Cpn60/TCP-1 family
 IPR002498  Phosphatidylinositol-4-phosphate 5-kinase, core
 IPR011011  Zinc finger, FYVE/PHD-type
 IPR013083  Zinc finger, RING/FYVE/PHD-type
 IPR017455  Zinc finger, FYVE-related
 IPR027409  GroEL-like apical domain superfamily
 IPR027410  TCP-1-like chaperonin intermediate domain superfamily
 IPR027483  Phosphatidylinositol-4-phosphate 5-kinase, C-terminal
 IPR027484  Phosphatidylinositol-4-phosphate 5-kinase, N-terminal
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily
 IPR037378  PIKfyve, DEP domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0016310 phosphorylation IEA
 biological_processGO:0032288 myelin assembly IGI
 biological_processGO:0034504 protein localization to nucleus IEA
 biological_processGO:0035556 intracellular signal transduction IDA
 biological_processGO:0042147 retrograde transport, endosome to Golgi IEA
 biological_processGO:0046488 phosphatidylinositol metabolic process IEA
 biological_processGO:0046854 phosphatidylinositol phosphorylation IEA
 biological_processGO:2000785 regulation of autophagosome assembly IEA
 cellular_componentGO:0000139 Golgi membrane TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005911 cell-cell junction IDA
 cellular_componentGO:0010008 endosome membrane IEA
 cellular_componentGO:0012506 vesicle membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IDA
 cellular_componentGO:0031901 early endosome membrane TAS
 cellular_componentGO:0031902 late endosome membrane TAS
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000285 1-phosphatidylinositol-3-phosphate 5-kinase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008270 zinc ion binding IDA
 molecular_functionGO:0016301 kinase activity IEA
 molecular_functionGO:0016307 phosphatidylinositol phosphate kinase activity IEA
 molecular_functionGO:0016308 1-phosphatidylinositol-4-phosphate 5-kinase activity IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0052810 1-phosphatidylinositol-5-kinase activity TAS


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the Golgi membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0000479 abnormal intestinal cell "anomalous structure or development of the cells comprising the intestine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0000689 abnormal spleen morphology "atypical structure of the organ that functions to filter blood and to store red corpuscles and platelets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:27463]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0000703 abnormal thymus morphology "anomalous structure or development of the primary lymphoid organ; required for immune system development" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:55400]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0000848 abnormal pons "malformed band of nerve fibers in the brain connecting the medulla oblongata and the mesencephalon; this region conveys information about movement from the cerebral hemisphere to the cerebellum" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:1776, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0000897 abnormal midbrain "malformation or malfunction associated with the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions, including eye movement and coordination of auditory and visual reflexes" [J:23882, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 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: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0000961 abnormal dorsal root ganglia morphology "malformed group of nerve cell bodies of each segmental nerve projecting from the spinal cord " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:60159]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0001511 disheveled coat "coat that looks generally unkempt" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0001552 increased circulating triglyceride level "higher than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:65416]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001570 abnormal circulating enzyme level "aberrent concentration in the blood of any of the proteins that act as catalysts for biological reactions" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0001698 reduced embryo size "smaller proportions of embryo compared to littermates" [J:61790]
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Allelic Composition: Etv2tm1Vkou/Etv2tm1Vkou,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: BALB/c * C57BL/6

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
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Allelic Composition: Etv2tm1Vkou/Etv2tm1Vkou,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: BALB/c * C57BL/6

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0001858 intestinal inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the intestine" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0002079 increased circulating insulin level "greater than normal levels of insulin in blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Etv2tm1Vkou/Etv2tm1Vkou,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: BALB/c * C57BL/6

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 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: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0002188 small heart "reduced size of the heart relative to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:67044]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0002663 failure to form blastocele "developmental anomaly resulting in the absence of the cavity in the blastula of the developing embryo" [cwg:Carroll W. Goldsmith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:19904]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0002702 decreased circulating free fatty acid level "lower than normal levels of unesterified fatty acids in the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0002703 abnormal renal tubules "anomalous structure or development of the loops of Henle and collecting ducts in the kidney" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0002718 abnormal inner cell mass "malformed or absent cells of the blastocyst that develop into the body of the embryo" [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: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0002754 dilated right ventricle "an expansion in the volume of the lower right chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0002834 decreased heart weight "less than average weight of the heart compared to the average for a particular strain" [RGD:Rat Genome Database submission]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0003212 susceptibility to age related obesity "increased probability of excessive weight gain that is progressive with age" [RGD:Rat Genome Database submission]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003292 melena "dark colored, foul-smelling feces due to the presence of blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0004274 abnormal embryonic/fetal subventricular zone morphology "any structural anomaly in the transient proliferative population of neurons that expands exponentially during late prenatal development; it is a continuous germinal zone distinct from the ventricular zone that surrounds the brain ventricles" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:12637172]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0004957 abnormal blastocyst morphology "any structural anomaly of the preimplantation embryo of mammals consisting of a hollow sphere of cells with an outer cell layer (trophoblast) that forms the placenta, a fluid-filled cavity (blastocoele), and a cluster of cells on the interior (the inner cell mass) that forms the embryo" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0004963 abnormal blastocoele morphology "any structural anomaly the fluid-filled cavity of the blastocyst of the preimplantation embryo of mammals" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0004974 decreased regulatory T cell number "reduced number of the specialized subpopulation of T cells that act to suppress activation of the immune system and thus maintain immune system homeostasis and prevent pathological self-reactivity" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Lyz2tm1(cre)Ifo/Lyz2+,Pikfyvetm1b(EUCOMM)Hmgu/Pikfyvetm1b(EUCOMM)Hmgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

 MP:0005011 increased eosinophil count "greater than normal eosinophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Dicer1tm1Bdh/Dicer1tm1Bdh,Sox1tm1(cre)Take/Sox1+
Genetic Background: involves: 129 * C57BL/6NCrlj * CBA/JNCrlj

 MP:0005028 abnormal trophectoderm "malformed outermost layer of cells in the blastodermic vesicle, which will contact the endometrium and take part in establishing the embryo s means of nutrition" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator, J:57761]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0005036 diarrhea "abnormally frequent discharge of semi-solid or fluid fecal matter from the bowel" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 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: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0005277 abnormal brainstem morphology "anomalous structure of the midbrain, pons, or medulla" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:82670]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0005293 impaired glucose tolerance "less than the normal response to oral consumption or intravenous injection of specified amounts of glucose and indicative of insulin resistance; measured by determining whole blood or plasma sugar level in a fasting state before and after taking glucose at specified intervals" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005331 insulin resistance "diminished effectiveness of insulin in lowering plasma glucose levels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:84260, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005419 hypoalbuminemia "blood albumin concentration below the normal range" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0005567 decreased circulating total protein level "less than the average total concentration of these macromolecules in the blood " [RGD:Rat Genome Database submission]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0005596 increased susceptibility to type I hypersensitvity reaction "greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation and degranulation are hallmarks" [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Lyz2tm1(cre)Ifo/Lyz2+,Pikfyvetm1b(EUCOMM)Hmgu/Pikfyvetm1b(EUCOMM)Hmgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

 MP:0006064 abnormal superior vena cava morphology "structural malformation in the principal vein draining blood from the upper portion of the body" [smb:Susan M Bello, Mouse Genome Informatics Curator, Taber s Cyclopedic Medical Dictionary:19th edition: ISBN N 0-8036-0655-99]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0006094 adipocyte hypertrophy "increase in the size of fat cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:90802]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008025 brain vacuoles "the abnormal presence of cavities or fluid-filled vesicles in the soma of brain cells, often indicative of spongiosis or other pathological states" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0008057 abnormal DNA replication "any anomaly in the process whereby new strands of DNA are synthesized" [GO:0006260]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0008109 abnormal small intestinal microvillus morphology "any structural anomaly of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0008141 decreased small intestinal microvillus size "reduced size of the additional extensions of the villi of the small intestine which protrude from the apical surface of the epithelial cells lining the villi; the microvilli increase the absorptive surface area of the small intestine by approximately 600-fold" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0008245 abnormal alveolar macrophage morphology "any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells" [CL:0000583, MESH:A.11.329.372.600]
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Allelic Composition: Lyz2tm1(cre)Ifo/Lyz2+,Pikfyvetm1b(EUCOMM)Hmgu/Pikfyvetm1b(EUCOMM)Hmgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

 MP:0008672 increased interleukin-13 secretion "increase in the production or release of a cytokine synthesized by T-cells that produces proliferation, immunoglobulin isotype switching, and immunoglobulin production by immature B-cells, and appears to play a role in regulating inflammatory and immune responses" [MESH:D12.644.276.374.465.513]
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Allelic Composition: Lyz2tm1(cre)Ifo/Lyz2+,Pikfyvetm1b(EUCOMM)Hmgu/Pikfyvetm1b(EUCOMM)Hmgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

 MP:0008699 increased interleukin-4 secretion "increase in the production or release of a soluble factor produced by activated T-cells that induces the expression of MHC class II genes and FC receptors on B-cells and causes their proliferation and differentiation; it also acts on T-cells, mast cells and several other hematopoietic lineage cells" [MESH:D12.644.276.374.465.504]
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Allelic Composition: Lyz2tm1(cre)Ifo/Lyz2+,Pikfyvetm1b(EUCOMM)Hmgu/Pikfyvetm1b(EUCOMM)Hmgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

 MP:0008727 enlarged right atrium "increased size of the right upper chamber of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0009285 increased gonadal fat pad weight "greater than average weight of the encapsulated adipose tissue associated with the ovaries or testes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009302 increased renal fat pad weight 
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0009641 kidney degeneration "a retrogressive impairment of function or destruction of either or both of the two excretory organs that filter wastes (especially urea) from the blood and excrete them and water in urine" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0009979 abnormal cerebellum deep nucleus morphology "any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei" [http://www.spiritus-temporis.com/cerebellum/anatomy.html]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0010018 lung vascular congestion "obstruction of the normal flux of blood within the blood vessel network of the lung" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0010024 increased total body fat amount "greater 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: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0010493 abnormal atrium myocardium morphology "any structural anomaly of the atrial part of middle layer of the heart, comprised of involuntary muscle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0010499 abnormal ventricle myocardium morphology "any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0010831 partial lethality "the appearance of lower than Mendelian ratios of offspring of a given genotype due to death of some, but not all of the organisms" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0010899 abnormal pulmonary alveolar system morphology 
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Allelic Composition: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 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: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 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: Nlrp3tm1Bhk/Nlrp3tm1Bhk
Genetic Background: involves: 129S6/SvEvTac

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0011097 complete embryonic lethality before turning of embryo "death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9)" [MGI:csmith]
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Allelic Composition: Etv2tm1Vkou/Etv2tm1Vkou,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: BALB/c * C57BL/6

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0011104 partial embryonic lethality before implantation "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 implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
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Allelic Composition: Ldb3tm6.2Chen/Ldb3tm6.2Chen
Genetic Background: involves: 129/Sv * Black Swiss * C57BL/6 * SJL

 MP:0011186 abnormal visceral endoderm morphology "any structural anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut" [PMID:21123814]
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Allelic Composition: Etv2tm1Vkou/Etv2tm1Vkou,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: BALB/c * C57BL/6

 MP:0011748 intestinal fibrosis "formation of fibrous tissue in any part of the intestine as a result of repair or a reactive process" [MGI:csmith]
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Allelic Composition: Pikfyvetm2.1Tssk/Pikfyvetm2.1Tssk,Tg(Vil-cre)20Syr/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * DBA/2

 MP:0012028 abnormal visceral endoderm physiology "any functional anomaly of the primitive endoderm-derived tissue which remains in contact with and surrounds the extra-embryonic ectoderm and the epiblast and provides signals for the differentiation and patterning of the epiblast; a small number of visceral endoderm cells also contribute to the endoderm of the embryonic gut" [MGI:csmith, PMID:21123814]
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Allelic Composition: Etv2tm1Vkou/Etv2tm1Vkou,Tg(Pgk1-cre)1Lni/0
Genetic Background: involves: BALB/c * C57BL/6

 MP:0014226 abnormal alveolar macrophage physiology 
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Allelic Composition: Lyz2tm1(cre)Ifo/Lyz2+,Pikfyvetm1b(EUCOMM)Hmgu/Pikfyvetm1b(EUCOMM)Hmgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

 MP:0014229 decreased alveolar macrophage number 
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Allelic Composition: Lyz2tm1(cre)Ifo/Lyz2+,Pikfyvetm1b(EUCOMM)Hmgu/Pikfyvetm1b(EUCOMM)Hmgu
Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

 MP:0030016 increased adipocyte glucose uptake "increased ability of adipocytes to take in glucose" [MGI:anna]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0030022 decreased muscle cell glucose uptake "reduced ability of muscle cells to take in glucose" [MGI:anna]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000010936 Vac14 / Q80WQ2 / Vac14 homolog (S. cerevisiae) / Q08AM6* / Vac14, PIKFYVE complex component*  / complex
 ENSMUSG00000038417 Fig4 / Q91WF7 / Polyphosphoinositide phosphatase / Q92562* / FIG4 phosphoinositide 5-phosphatase*  / complex






 

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