ENSMUSG00000005583


Mus musculus

Features
Gene ID: ENSMUSG00000005583
  
Biological name :Mef2c
  
Synonyms : Mef2c / Mus musculus myocyte enhancer factor 2C (Mef2c), transcript variant 14, mRNA. / Q8CFN5
  
Possible biological names infered from orthology : myocyte enhancer factor 2C / Q06413
  
Species: Mus musculus
  
Chr. number: 13
Strand: 1
Band: C3
Gene start: 83504034
Gene end: 83667080
  
Corresponding Affymetrix probe sets: 10406434 (MoGene1.0st)   1421027_a_at (Mouse Genome 430 2.0 Array)   1421028_a_at (Mouse Genome 430 2.0 Array)   1424852_at (Mouse Genome 430 2.0 Array)   1451506_at (Mouse Genome 430 2.0 Array)   1451507_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000142619
Ensembl peptide - ENSMUSP00000142595
Ensembl peptide - ENSMUSP00000142714
Ensembl peptide - ENSMUSP00000143742
Ensembl peptide - ENSMUSP00000143611
Ensembl peptide - ENSMUSP00000143598
Ensembl peptide - ENSMUSP00000143420
Ensembl peptide - ENSMUSP00000143401
Ensembl peptide - ENSMUSP00000143339
Ensembl peptide - ENSMUSP00000143338
Ensembl peptide - ENSMUSP00000143315
Ensembl peptide - ENSMUSP00000143286
Ensembl peptide - ENSMUSP00000143235
Ensembl peptide - ENSMUSP00000143227
Ensembl peptide - ENSMUSP00000143221
Ensembl peptide - ENSMUSP00000143212
Ensembl peptide - ENSMUSP00000143187
Ensembl peptide - ENSMUSP00000143058
Ensembl peptide - ENSMUSP00000142897
Ensembl peptide - ENSMUSP00000142884
Ensembl peptide - ENSMUSP00000142833
Ensembl peptide - ENSMUSP00000142715
Ensembl peptide - ENSMUSP00000005722
Ensembl peptide - ENSMUSP00000132547
Ensembl peptide - ENSMUSP00000138826
Ensembl peptide - ENSMUSP00000142399
Ensembl peptide - ENSMUSP00000142456
Ensembl peptide - ENSMUSP00000142487
NCBI entrez gene - 17260     See in Manteia.
MGI - MGI:99458
RefSeq - XM_017315411
RefSeq - NM_001170537
RefSeq - NM_001347571
RefSeq - NM_001347572
RefSeq - NM_001347573
RefSeq - NM_001347574
RefSeq - NM_001347575
RefSeq - NM_001347576
RefSeq - NM_001347577
RefSeq - NM_001347579
RefSeq - NM_001347580
RefSeq - NM_025282
RefSeq - XM_006517120
RefSeq - XM_006517121
RefSeq - XM_006517122
RefSeq - XM_006517123
RefSeq - XM_006517124
RefSeq - XM_006517126
RefSeq - XM_006517127
RefSeq - XM_006517128
RefSeq - XM_006517129
RefSeq - XM_006517130
RefSeq - XM_006517131
RefSeq - XM_006517132
RefSeq - XM_011244492
RefSeq - XM_011244495
RefSeq - XM_017315405
RefSeq - XM_017315406
RefSeq - XM_017315407
RefSeq - XM_017315408
RefSeq - XM_017315409
RefSeq - XM_017315410
RefSeq Peptide - NP_001334501
RefSeq Peptide - NP_001334502
RefSeq Peptide - NP_001334493
RefSeq Peptide - NP_001334495
RefSeq Peptide - NP_001334496
RefSeq Peptide - NP_001334497
RefSeq Peptide - NP_001334503
RefSeq Peptide - NP_001334504
RefSeq Peptide - NP_001334505
RefSeq Peptide - NP_001334506
RefSeq Peptide - NP_001334507
RefSeq Peptide - NP_001334508
RefSeq Peptide - NP_001334509
RefSeq Peptide - NP_079558
RefSeq Peptide - NP_001334498
RefSeq Peptide - NP_001334500
RefSeq Peptide - NP_001164008
swissprot - A0A0G2JE38
swissprot - A0A0G2JE18
swissprot - A0A0G2JDT0
swissprot - A0A0G2JDQ1
swissprot - Q3V1B5
swissprot - Q8CFN5
swissprot - A0A0G2JDK0
swissprot - A0A0H2UKB6
swissprot - A0A0H2UH28
swissprot - A0A0G2JGL3
swissprot - A0A0G2JGK3
swissprot - A0A0G2JFX2
swissprot - A0A0G2JFX1
swissprot - A0A0G2JFS4
swissprot - A0A0G2JFM7
swissprot - A0A0G2JFL7
swissprot - A0A0G2JFI7
swissprot - A0A0G2JF80
swissprot - A0A0G2JET3
swissprot - A0A0G2JES4
swissprot - A0A0G2JEM8
swissprot - A0A0G2JEC3
swissprot - A0A0G2JEC2
Ensembl - ENSMUSG00000005583
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mef2cbENSDARG00000009418Danio rerio
 MEF2CENSGALG00000014645Gallus gallus
 MEF2CENSG00000081189Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mef2a / Q60929 / Mus musculus myocyte enhancer factor 2A (Mef2a), transcript variant 7, mRNA. / Q02078* / myocyte enhancer factor 2A*ENSMUSG0000003055762
Mef2d / Q63943 / Myocyte-specific enhancer factor 2D / Q14814* / myocyte enhancer factor 2D*ENSMUSG0000000141955
Mef2b / myocyte enhancer factor 2B / Q02080*ENSMUSG0000007903329


Protein motifs (from Interpro)
Interpro ID Name
 IPR002100  Transcription factor, MADS-box
 IPR022102  Holliday junction regulator protein family C-terminal
 IPR033896  MADS MEF2-like
 IPR036879  Transcription factor, MADS-box superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0000165 MAPK cascade IMP
 biological_processGO:0001568 blood vessel development IMP
 biological_processGO:0001649 osteoblast differentiation IGI
 biological_processGO:0001764 neuron migration IMP
 biological_processGO:0001782 B cell homeostasis IMP
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0001958 endochondral ossification IMP
 biological_processGO:0001974 blood vessel remodeling IMP
 biological_processGO:0002062 chondrocyte differentiation IGI
 biological_processGO:0002467 germinal center formation IMP
 biological_processGO:0002634 regulation of germinal center formation IMP
 biological_processGO:0002931 response to ischemia ISS
 biological_processGO:0003138 primary heart field specification IMP
 biological_processGO:0003139 secondary heart field specification IMP
 biological_processGO:0003151 outflow tract morphogenesis IGI
 biological_processGO:0003185 sinoatrial valve morphogenesis IMP
 biological_processGO:0003211 cardiac ventricle formation IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006959 humoral immune response IMP
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007507 heart development IMP
 biological_processGO:0007519 skeletal muscle tissue development IMP
 biological_processGO:0007521 muscle cell fate determination IMP
 biological_processGO:0007611 learning or memory IMP
 biological_processGO:0010628 positive regulation of gene expression IMP
 biological_processGO:0010629 negative regulation of gene expression IMP
 biological_processGO:0010694 positive regulation of alkaline phosphatase activity IMP
 biological_processGO:0014033 neural crest cell differentiation IMP
 biological_processGO:0014898 cardiac muscle hypertrophy in response to stress IMP
 biological_processGO:0014902 myotube differentiation IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0030182 neuron differentiation IMP
 biological_processGO:0030220 platelet formation IMP
 biological_processGO:0030224 monocyte differentiation IMP
 biological_processGO:0030279 negative regulation of ossification ISO
 biological_processGO:0030318 melanocyte differentiation IMP
 biological_processGO:0030501 positive regulation of bone mineralization IMP
 biological_processGO:0030890 positive regulation of B cell proliferation IMP
 biological_processGO:0035690 cellular response to drug IDA
 biological_processGO:0035914 skeletal muscle cell differentiation NAS
 biological_processGO:0035984 cellular response to trichostatin A IDA
 biological_processGO:0042100 B cell proliferation IMP
 biological_processGO:0043406 positive regulation of MAP kinase activity ISS
 biological_processGO:0043523 regulation of neuron apoptotic process IMP
 biological_processGO:0043524 negative regulation of neuron apoptotic process IDA
 biological_processGO:0043537 negative regulation of blood vessel endothelial cell migration IEA
 biological_processGO:0045165 cell fate commitment IMP
 biological_processGO:0045652 regulation of megakaryocyte differentiation IMP
 biological_processGO:0045663 positive regulation of myoblast differentiation ISO
 biological_processGO:0045666 positive regulation of neuron differentiation IDA
 biological_processGO:0045669 positive regulation of osteoblast differentiation IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated ISO
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0046928 regulation of neurotransmitter secretion IMP
 biological_processGO:0048167 regulation of synaptic plasticity IMP
 biological_processGO:0048643 positive regulation of skeletal muscle tissue development ISS
 biological_processGO:0048666 neuron development IMP
 biological_processGO:0048667 cell morphogenesis involved in neuron differentiation IMP
 biological_processGO:0048703 embryonic viscerocranium morphogenesis IMP
 biological_processGO:0048704 embryonic skeletal system morphogenesis IMP
 biological_processGO:0050680 negative regulation of epithelial cell proliferation IMP
 biological_processGO:0050853 B cell receptor signaling pathway IMP
 biological_processGO:0051145 smooth muscle cell differentiation IMP
 biological_processGO:0051963 regulation of synapse assembly IMP
 biological_processGO:0051966 regulation of synaptic transmission, glutamatergic IMP
 biological_processGO:0055007 cardiac muscle cell differentiation NAS
 biological_processGO:0055012 ventricular cardiac muscle cell differentiation IMP
 biological_processGO:0060021 roof of mouth development IGI
 biological_processGO:0060025 regulation of synaptic activity IMP
 biological_processGO:0060045 positive regulation of cardiac muscle cell proliferation IMP
 biological_processGO:0060079 excitatory postsynaptic potential IMP
 biological_processGO:0060297 regulation of sarcomere organization IMP
 biological_processGO:0060536 cartilage morphogenesis IMP
 biological_processGO:0060998 regulation of dendritic spine development IMP
 biological_processGO:0061333 renal tubule morphogenesis IMP
 biological_processGO:0071222 cellular response to lipopolysaccharide IDA
 biological_processGO:0071277 cellular response to calcium ion IDA
 biological_processGO:0071374 cellular response to parathyroid hormone stimulus ISS
 biological_processGO:0071498 cellular response to fluid shear stress IDA
 biological_processGO:0071560 cellular response to transforming growth factor beta stimulus ISS
 biological_processGO:0071864 positive regulation of cell proliferation in bone marrow IGI
 biological_processGO:0072102 glomerulus morphogenesis IMP
 biological_processGO:0072160 nephron tubule epithelial cell differentiation IMP
 biological_processGO:0090073 positive regulation of protein homodimerization activity IDA
 biological_processGO:1904706 negative regulation of vascular smooth muscle cell proliferation IEA
 biological_processGO:1904753 negative regulation of vascular associated smooth muscle cell migration IEA
 biological_processGO:1905563 negative regulation of vascular endothelial cell proliferation IEA
 biological_processGO:2000111 positive regulation of macrophage apoptotic process IMP
 biological_processGO:2000310 regulation of NMDA receptor activity IMP
 biological_processGO:2000311 regulation of AMPA receptor activity IMP
 biological_processGO:2000727 positive regulation of cardiac muscle cell differentiation IMP
 biological_processGO:2000987 positive regulation of behavioral fear response IMP
 biological_processGO:2001013 epithelial cell proliferation involved in renal tubule morphogenesis IMP
 biological_processGO:2001016 positive regulation of skeletal muscle cell differentiation ISO
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0016528 sarcoplasm IEA
 cellular_componentGO:0016607 nuclear speck ISO
 cellular_componentGO:0032991 protein-containing complex ISS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 cellular_componentGO:0098794 postsynapse IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA
 molecular_functionGO:0000983 transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding ISS
 molecular_functionGO:0000987 proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001046 core promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IMP
 molecular_functionGO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003680 AT DNA binding ISO
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003700 DNA-binding transcription factor activity ISO
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0033613 activating transcription factor binding ISO
 molecular_functionGO:0042826 histone deacetylase binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity ISO
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0071837 HMG box domain binding IPI


Pathways (from Reactome)
Pathway description
CDO in myogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 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: Mef2ctm1Jjs/Mef2ctm1Jjs,Mir223tm1Fcam/Mir223tm1Fcam,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129 * C57BL/6

 MP:0000259 abnormal vascular development "malformation or aberrant differentiation of the blood vessels" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17509]
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 MP:0000267 abnormal cardiac development "aberrant formation or incomplete differentiation of the heart" [MGI:cls, J:53370]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 MP:0000279 ventricular hypoplasia "reduction in cell number of one or both of the two lower chambers of the heart" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:61790]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

Allelic Composition: Mef2ctm1.1Jjs/Mef2ctm1.1Jjs
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac

 MP:0000280 thin ventricular wall "decreased depth of the cardiac wall of the heart ventricles" [J:45302]
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 MP:0000295 poorly developed ventricular trabeculae "retarded differentation of the supporting bundles of muscular fibers lining the walls of the ventricles of the heart" [J:29971]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 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: Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Mef2ctm1Eno/Mef2ctm2Eno,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0000774 reduced brain size "smaller appearance of the brain" [J:35802]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001614 abnormal vasculature "anomalies in the structure of development of the network of tubes that carries blood through the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 MP:0001689 incomplete somite formation "arrest of differentiation or patterning of the somites" [J:62882]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 MP:0001954 respiratory distress "physical difficulty or inability to breathe" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:54931]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002080 prenatal lethality "death anytime between fertilization and E18.5" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Otx2tm1Pas/Otx2+
Genetic Background: involves: C57BL/6 * FVB/N

 MP:0002081 perinatal lethality "death anytime between E18.5 and postnatal day 1 " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Srftm1.1Wtp/Srftm1.1Wtp
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL * Swiss Webster

 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: Vkorc1tm1.1Jobg/Vkorc1tm1.1Jobg
Genetic Background: involves: 129S4/SvJae * BALB/cJ * C57BL/6

 MP:0002123 abnormal hematopoiesis "abnormal development of the enucleated fetal and adult erythrocytes that develop in the aorta, genital ridge and mesonephros region and later in the fetal and adult liver" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 MP:0002127 abnormal cardiovascular system morphology "abnormal development of the heart or vascular tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 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: Mef2ctm1.1Jjs/Mef2ctm1.1Jjs
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac

Allelic Composition: Mef2ctm1Eno/Mef2ctm1Jjs,Myl2tm1(cre)Krc/Myl2+
Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * 129S7/SvEvBrd

Allelic Composition: Mef2cm1Anu/Mef2c+
Genetic Background: C57BL/6NCrlAnu-Mef2cm1Anu/Anu

 MP:0002207 abnormal long term potentiation "alterations in a persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002415 abnormal neutrophil morphology/development "anomalous structure, differentiation, or number of the granular leukocytes that have a three- to five-lobed nucleus and a cytoplasm that contains inconspicuous granules stainable by neutral dyes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mef2ctm1Jjs/Mef2ctm1Jjs,Mir223tm1Fcam/Mir223tm1Fcam,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129 * C57BL/6

 MP:0002463 abnormal neutrophil physiology "abnormal function of these granular leukocytes, which stain with neutral dyes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mef2ctm1Jjs/Mef2ctm1Jjs,Mir223tm1Fcam/Mir223tm1Fcam,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129 * C57BL/6

 MP:0002672 abnormal branchial arch artery morphology "malformation of the vessels formed within the five pairs of branchial arches in embryogenesis; in the adult, some of these vessels give rise to the great vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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 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: Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002765 short fibula "reduced length of the lateral and smaller of bone of the lower leg" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:12736]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002919 enhanced paired-pulse facilitation "increase in the response of central synapses when activated twice in rapid succession; indicative of defects in short-term plasticity due to greater increase of neurotransmitter release at the second stimulus" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0003228 abnormal sinus venosus "malformation in the cavity at the caudal end of the embryonic cardiac tube in which the veins from the intra- and extraembryonic circulatory arcs unite; in the adult this becomes the portion of the right atrium known as the sinus of the vena cava" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93157]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 MP:0003229 abnormal vitelline vasculature "malformation in the vessels of the yolk sac" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:93257]
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Allelic Composition: Mef2ctm1Eno/Mef2ctm1Eno
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003542 abnormal vascular endothelial cell development "malformation or aberrant differentiation of the cells that line the vasculature" [J:95387, smb:Susan M Bello, Mouse Genome Informatics Curator]
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 MP:0003974 abnormal endocardium morphology "malformation of the thin serous membrane, primarily composed of endothelial tissue, that lines the interior of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2ctm1Eno/Mef2ctm1Eno
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Mef2ctm1.1Jjs/Mef2ctm1.1Jjs
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac

 MP:0004068 dilated dorsal aorta "an expansion in the volume of the dorsal region of the main trunk of the systemic arteries" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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 MP:0004115 abnormal sinoatrial node morphology "structural anomaly in the small mass of modified cardiac muscle fibers located at the junction of the superior vena cava and the right atruim that is the source of contraction impulses for the heart" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mef2ctm1.1Jjs/Mef2ctm1.1Jjs
Genetic Background: involves: 129S4/SvJaeSor * 129S6/SvEvTac

 MP:0004251 failure of looping morphogenesis "failure of the primitive heart tube to initiate or complete looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Mef2ctm1Eno/Mef2ctm1Eno
Genetic Background: involves: 129S7/SvEvBrd

 MP:0004686 decreased length of long bones "reduced end-to-end length of the several elongated bones of the extremities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mef2ctm1Eno/Mef2ctm2Eno,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0004787 abnormal dorsal aorta morphology "any structural anomaly of the paired arterial structures of the embryo that supplies each developing somite via efferent segmental arteries; the dorsal aortae articulate with the umbilical arteries, which return mixed blood to the villi of the chorion for reoxygenation" [ISBN:0-914294-08-3 "Gray s Anatomy"]
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 MP:0005140 decreased cardiac muscle contractility "inability or reduced ability of the heart muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 MP:0005598 decreased ventricle muscle contractility "reduced ability of the heart ventricle muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Bmpr1atm2.1Bhr/Bmpr1atm2.2Bhr,Tg(Gdf5-cre-ALPP)1Kng/0
Genetic Background: involves: 129 * C57BL/6 * FVB/N-Tg(Gdf5-cre-ALPP)1Kng

 MP:0008272 abnormal endochondral bone ossification "anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Mef2ctm1Eno/Mef2ctm2Eno,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * SJL

 MP:0008275 failure of endochondral bone ossification "failure to initiate or a block in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Mef2ctm2Eno/Mef2ctm2Eno,Mef2dtm1Eno/Mef2dtm1Eno,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0008278 failure of sternum ossification "failure to initiate or a block in the process of the formation of the sternum bone by the replacement of cartilage tissue with mineralized bone" [GO:0001958, MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: En1tm3.1(En2)Alj/En1tm3.1(En2)Alj
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Mef2ctm1Eno/Mef2ctm2Eno,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * 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: Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0009051 dilated distal convoluted tubules "stretched or widened aperture of the luminal space of the convoluted portion of the duct system of the nephron between the ascending portion of the loop of Henle and the collecting duct system in the kidney cortex" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

 MP:0009409 abnormal skeletal muscle fiber type ratio "deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Hdac4tm1Eno/Hdac4+,Hdac5tm1Eno/Hdac5tm1Eno,Hdac9tm1Eno/Hdac9+
Genetic Background: involves: 129 * 129S1/Sv * 129S2/SvPas * 129X1/SvJ

 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: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Mef2ctm1Eno/Mef2c+,Mef2dtm1.1Eno/Mef2d+
Genetic Background: involves: 129S7/SvEvBrd

 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: Mef2ctm1Eno/Mef2ctm1Eno
Genetic Background: involves: 129S7/SvEvBrd

 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: Bhlhe22tm2.1Meg/Bhlhe22tm2.1Meg,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129/Sv * C57BL/6J * CBA/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000435 Myf5 / P24699 / Myogenic factor 5 / P13349*  / reaction / complex
 ENSMUSG00000053436 Mapk14 / P47811 / Mitogen-activated protein kinase 14 / Q16539*  / complex / reaction
 ENSMUSG00000020167 Tcf3 / P15806 / Transcription factor E2-alpha / P15923* / transcription factor 3*  / complex / reaction
 ENSMUSG00000026459 Myog / P12979 / Myogenin / P15173*  / reaction / complex
 ENSMUSG00000035923 Myf6 / P15375 / Myogenic factor 6 / P23409*  / reaction / complex
 ENSMUSG00000009471 Myod1 / P10085 / Myoblast determination protein 1 / P15172* / myogenic differentiation 1*  / reaction / complex
 ENSMUSG00000022610 Mapk12 / O08911 / Mitogen-activated protein kinase 12 / P53778*  / reaction / complex
 ENSMUSG00000053137 Mapk11 / Q9WUI1 / Mitogen-activated protein kinase 11 / Q15759*  / complex / reaction






 

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