ENSMUSG00000036893


Mus musculus

Features
Gene ID: ENSMUSG00000036893
  
Biological name :Ehmt1
  
Synonyms : Ehmt1 / Histone-lysine N-methyltransferase EHMT1 / Q5DW34
  
Possible biological names infered from orthology : euchromatic histone lysine methyltransferase 1 / Q9H9B1
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: A3
Gene start: 24789928
Gene end: 24919614
  
Corresponding Affymetrix probe sets: 10480541 (MoGene1.0st)   1454776_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000110075
Ensembl peptide - ENSMUSP00000146832
Ensembl peptide - ENSMUSP00000143189
Ensembl peptide - ENSMUSP00000142861
Ensembl peptide - ENSMUSP00000141940
Ensembl peptide - ENSMUSP00000141912
Ensembl peptide - ENSMUSP00000141460
Ensembl peptide - ENSMUSP00000123387
Ensembl peptide - ENSMUSP00000123187
Ensembl peptide - ENSMUSP00000119854
Ensembl peptide - ENSMUSP00000119057
Ensembl peptide - ENSMUSP00000046077
Ensembl peptide - ENSMUSP00000088906
Ensembl peptide - ENSMUSP00000100002
Ensembl peptide - ENSMUSP00000110061
NCBI entrez gene - 77683     See in Manteia.
MGI - MGI:1924933
RefSeq - XM_006498423
RefSeq - XM_006498424
RefSeq - XM_006498425
RefSeq - XM_006498426
RefSeq - XM_006498427
RefSeq - XM_006498429
RefSeq - XM_006498430
RefSeq - XM_006498431
RefSeq - XM_006498432
RefSeq - XM_006498422
RefSeq - XM_017319336
RefSeq - NM_001012518
RefSeq - NM_001109686
RefSeq - NM_001109687
RefSeq - NM_172545
RefSeq - XM_017319335
RefSeq Peptide - NP_001103156
RefSeq Peptide - NP_001103157
RefSeq Peptide - NP_766133
RefSeq Peptide - NP_001012536
swissprot - Z4YJZ7
swissprot - A2AIS5
swissprot - A0A1B0GXE2
swissprot - A0A140LII4
swissprot - A0A0H2UH19
swissprot - A0A0G2JFI9
swissprot - A0A0G2JEQ4
swissprot - A0A0A6YXD1
swissprot - A0A0A6YXA8
swissprot - A0A0A6YWA0
swissprot - F6WWY8
swissprot - Q5DW34
swissprot - E9Q5A3
Ensembl - ENSMUSG00000036893
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ehmt1aENSDARG00000068157Danio rerio
 ehmt1bENSDARG00000026634Danio rerio
 EHMT1ENSGALG00000033678Gallus gallus
 EHMT1ENSG00000181090Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ehmt2 / Q9Z148 / Histone-lysine N-methyltransferase EHMT2 / Q96KQ7* / euchromatic histone lysine methyltransferase 2*ENSMUSG0000001378744
Nsd1 / nuclear receptor-binding SET-domain protein 1 / Q96L73*ENSMUSG0000002148815
Nsd3 / Q6P2L6 / Histone-lysine N-methyltransferase NSD3 / Q9BZ95* / nuclear receptor binding SET domain protein 3*ENSMUSG0000005482314
Nsd2 / Q8BVE8 / Histone-lysine N-methyltransferase NSD2 / O96028* / nuclear receptor binding SET domain protein 2*ENSMUSG0000005740614
Setd2 / E9Q5F9 / Histone-lysine N-methyltransferase SETD2 / Q9BYW2* / SET domain containing 2*ENSMUSG0000004479113
Setdb1 / SET domain, bifurcated 1 / Q15047*ENSMUSG0000001569713
Ash1l / Q99MY8 / Histone-lysine N-methyltransferase ASH1L / Q9NR48* / ASH1 like histone lysine methyltransferase*ENSMUSG0000002805311
Ezh2 / Q61188 / Histone-lysine N-methyltransferase EZH2 / Q15910* / enhancer of zeste 2 polycomb repressive complex 2 subunit*ENSMUSG0000002968710
Ezh1 / P70351 / Histone-lysine N-methyltransferase EZH1 / Q92800* / enhancer of zeste 1 polycomb repressive complex 2 subunit*ENSMUSG0000000692010
Q9Z180 / Setbp1 / SET-binding protein / Q9Y6X0* / SET binding protein 1*ENSMUSG000000245489
O54864 / Suv39h1 / suppressor of variegation 3-9 1 / O43463* / suppressor of variegation 3-9 homolog 1*ENSMUSG000000392319
Q8C267 / Setdb2 / SET domain, bifurcated 2 / Q96T68*ENSMUSG000000713509
Suv39h2 / suppressor of variegation 3-9 2 / Q9H5I1* / suppressor of variegation 3-9 homolog 2*ENSMUSG000000266469
Q80UJ9 / Setmar / Histone-lysine N-methyltransferase SETMAR / Q53H47* / SET domain and mariner transposase fusion gene*ENSMUSG000000346397


Protein motifs (from Interpro)
Interpro ID Name
 IPR001214  SET domain
 IPR002110  Ankyrin repeat
 IPR007728  Pre-SET domain
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0006306 DNA methylation IDA
 biological_processGO:0006325 chromatin organization ISO
 biological_processGO:0009790 embryo development IMP
 biological_processGO:0016571 histone methylation ISO
 biological_processGO:0018026 peptidyl-lysine monomethylation IMP
 biological_processGO:0018027 peptidyl-lysine dimethylation ISO
 biological_processGO:0032259 methylation IEA
 biological_processGO:0034968 histone lysine methylation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IMP
 biological_processGO:0051567 histone H3-K9 methylation IEA
 biological_processGO:0060992 response to fungicide IEA
 biological_processGO:0070734 histone H3-K27 methylation IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm ISO
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0016604 nuclear body ISO
 molecular_functionGO:0002039 p53 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008168 methyltransferase activity ISO
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016279 protein-lysine N-methyltransferase activity ISO
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0018024 histone-lysine N-methyltransferase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046974 histone methyltransferase activity (H3-K9 specific) IMP
 molecular_functionGO:0046976 histone methyltransferase activity (H3-K27 specific) IDA
 molecular_functionGO:0070742 C2H2 zinc finger domain binding IPI


Pathways (from Reactome)
Pathway description
Senescence-Associated Secretory Phenotype (SASP)
PKMTs methylate histone lysines
Regulation of TP53 Activity through Methylation
Transcriptional Regulation by E2F6


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000102 abnormal nasal bone morphology "malformed elongated rectangular bone that forms part of the nasal bridge" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:17489]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0000120 malocclusion "perturbations in the normal patterned arrangement of the teeth or alignment of the jaw, resulting in the incorrect position of biting or chewing surfaces of the upper and lower teeth" [J:61509]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 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: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0000301 reduced size of endocardial cushions "smaller than normal mounds of embryonic connective tissue that bulge into the embryonic atrioventricular canal" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:29973]
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Allelic Composition: Ehmt1tm2Yshk/Ehmt1tm2Yshk,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0000929 open neural tube "incomplete invagination and fusion of the neuroepithelial layer in early development" [MGI:CLS, J:53370, J:62571]
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Allelic Composition: Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic Background: involves: 129X1/SvJ

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0001261 obese "excessively fat; an increase in fat in the subcutaneous connective tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

 MP:0001314 corneal opacity "complete or partial clouding of the cornea" [jte:Janan T. Eppig , Mouse Genome Informatics, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0001360 abnormal social investigation "altered behavior of animals to approach and examine other animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tg(Gfap-TNF*)K21Gkl/0,Tnfrsf1atm1Blt/Tnfrsf1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001364 decreased anxiety-related response "when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:86626, J:85438, J:64043]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

Allelic Composition: Ehmt1tm1.1Tara/Ehmt1tm1.1Tara,Ehmt2tm1.1Tara/Ehmt2tm1.1Tara,Tg(Camk2a-cre)2Gsc/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ehmt1tm1.2Tara/Ehmt1+,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6

Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0001417 decreased exploration in new environment "less amount of time spent investigating a new location" [J:79870]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

Allelic Composition: Ehmt1tm1.1Tara/Ehmt1tm1.1Tara,Ehmt2tm1.1Tara/Ehmt2tm1.1Tara,Tg(Camk2a-cre)2Gsc/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ehmt1tm1.2Tara/Ehmt1+,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6

Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001423 abnormal liquid preference "the desire to drink more or less fluids than average, or to drink unusual fluids" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0001458 abnormal object recognition memory "defects in the ability to recognize objects that the animal has previously encountered; recognition is measured by relative amount of time exploring objects, which should decrease upon subsequent or multiple presentations of the same object when presented with novel objects at the same time" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001488 increased startle reflex "reduced threshold or more severe reflex response to variable stimuli, often auditory; usually measured by amplitude of whole body flinch" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

 MP:0001554 increased circulating free fatty acid level "higher than normal levels of unesterified fatty acids in the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0001689 incomplete somite formation "arrest of differentiation or patterning of the somites" [J:62882]
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Allelic Composition: Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic Background: involves: 129X1/SvJ

 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: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0001900 impaired synaptic plasticity "decreased or inability of the nervous system to change its reactivity as a result of successive activations " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0002062 abnormal conditioning behavior "inability to change the frequency or form of a behavior as a result of the influence of the environment " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tg(Gfap-TNF*)K21Gkl/0,Tnfrsf1atm1Blt/Tnfrsf1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0002067 abnormal sensory capabilities/reflexes/nociception "inability or altered ability to respond to a sensory stimulus" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tg(Gfap-TNF*)K21Gkl/0,Tnfrsf1atm1Blt/Tnfrsf1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 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: Cdkn1atm1Tyj/Cdkn1atm1Tyj,Csnk1a1tm1.1Ybn/Csnk1a1tm1.1Ybn,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129 * C57BL/6 * CD-1 * DBA/2

 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: Cdkn1atm1Tyj/Cdkn1atm1Tyj,Csnk1a1tm1.1Ybn/Csnk1a1tm1.1Ybn,Tg(Vil-cre/ERT2)23Syr/0
Genetic Background: involves: 129 * C57BL/6 * CD-1 * DBA/2

Allelic Composition: Ehmt1tm2Yshk/Ehmt1tm2Yshk,Tg(Myh6-cre)2182Mds/0
Genetic Background: involves: FVB/N

 MP:0002557 abnormal social/conspecific interaction "deviation of the normal behavior of mice towards each other" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Tg(Gfap-TNF*)K21Gkl/0,Tnfrsf1atm1Blt/Tnfrsf1a+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0002757 reduced vertical activity "lesser than average time spent jumping or rearing" [J:82829, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

Allelic Composition: Ehmt1tm1.1Tara/Ehmt1tm1.1Tara,Ehmt2tm1.1Tara/Ehmt2tm1.1Tara,Tg(Camk2a-cre)2Gsc/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ehmt1tm1.2Tara/Ehmt1+,Tg(CMV-cre)1Cgn/0
Genetic Background: involves: 129P2/OlaHsd * BALB/cJ * C57BL/6

Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 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: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0003420 delayed intramembranous bone ossification "late onset of bone formation in bones that form without a cartilagenous intermediate including the cranium and clavicle" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:94631]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0003461 abnormal response to novel object "altered investigative behavior from controls in reactions associated with exposing an animal to a novel object" [CFG:Center for Functional Genomics, Northwestern University]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0003842 abnormal metopic suture morphology "malformation of the articulation of the frontal bone from the sagital suture to the root of the nose" [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: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0003960 increased lean body mass "more 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: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 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: Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic Background: involves: 129X1/SvJ

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 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: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0005288 abnormal oxygen consumption "deviation from the normal rate at which oxygen enters the blood from alveolar gas; this is equal in the steady state to the consumption of oxygen by tissue metabolism throughout the body" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 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: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 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: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 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: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0005534 decreased body temperature "less than the level of heat natural to a living being" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0005559 increased circulating glucose level "greater than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, RGD:Rat Genome Database submission]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0008770 decreased survivor rate "a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0009121 increased white fat cell lipid droplet size "increase in the size of the single large lipid droplet or vacuole of white fat cells" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0009124 increased brown fat cell lipid droplet size "increase in the size of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0009136 decreased brown fat cell size "reduction in the size of fat cells from the thermogenic form of adipose tissue" [MESH:A.10.165.114.322]
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Allelic Composition: SdhbGt(AP0532)Wtsi/Sdhb+,SdhcGt(BA0521)Wtsi/Sdhc+,Sdhdtm1Jlob/Sdhd+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009137 decreased brown fat lipid droplet number "reduction in the number of the multiple small droplets of triglycerides found in brown adipocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: SdhbGt(AP0532)Wtsi/Sdhb+,SdhcGt(BA0521)Wtsi/Sdhc+,Sdhdtm1Jlob/Sdhd+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009288 increased epididymal fat pad weight 
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0009294 increased interscapular fat pad weight 
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0009295 decreased interscapular fat pad weight 
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Allelic Composition: SdhbGt(AP0532)Wtsi/Sdhb+,SdhcGt(BA0521)Wtsi/Sdhc+,Sdhdtm1Jlob/Sdhd+
Genetic Background: involves: 129P2/OlaHsd

 MP:0009355 increased liver triglyceride level "higher than normal concentration of triacylglycerols in the liver" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0009429 decreased embryo weight "reduced weight of an embryo compared to littermates or other controls (sensu Mus: up to E14, or the completion of organogenesis)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0009431 decreased fetal weight "reduced weight of a fetus compared to controls (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0009454 impaired contextual conditioning "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0009456 impaired cued conditioning behavior "decrease in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and a neutral stimulus (the conditioned stimulus (CS), usually an auditory cue or light flash)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 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: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0009747 impaired behavioral response to xenobiotic "decreased sensitivity to a foreign compound capable of inducing the appearance of behavioral response, such as consumption preference, induced hyperactivity or stereotypic behavior, or increased dosage threshold for the appearance of the behavioral response" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ccl2tm1Rol/Ccl2tm1Rol
Genetic Background: (129S4/SvJae x C57BL/6)F1

 MP:0009936 abnormal dendritic spine morphology "any structural anomaly of the small membranous protrusion from the dendrite of a neuron that is involved in synaptic transmission; it typically receives input from a single synapse of an axon" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 MP:0009940 abnormal hippocampus pyramidal cell morphology "any structural anomaly of the projection neuron in the pyramidal layer of the hippocampus" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ehmt1tm1Yshk/Ehmt1+
Genetic Background: involves: C57BL/6J * C57BL/6NCrlj * CBA/JNCrlj

 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: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0010052 increased grip strength "greater ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Ehmt1tm1b(EUCOMM)Hmgu/Ehmt1+
Genetic Background: C57BL/6N-Ehmt1tm1b(EUCOMM)Hmgu/Nju

 MP:0010412 atrioventricular septal defect "defects in the thin membranous structure between the right atrium and left ventricle that arise from faulty development of the embryonic endocardial cushions; the spectrum ranges from a primum atrial septal defect and cleft mitral valve, known as a partial atrioventricular septal defect (partial AVSD), to defects of both the primum atrial septum and inlet ventricular septum and the presence of a common atrioventricular valve, referred to as complete atrioventricular septal defect (complete AVSD)" [http://emedicine.medscape.com]
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Allelic Composition: Ehmt1tm2Yshk/Ehmt1tm2Yshk,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010614 abnormal mitral valve cusp morphology "any structural anomaly of the two fibrous components and associated flaps of the mitral valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ehmt1tm2Yshk/Ehmt1tm2Yshk,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010625 absent tricuspid valve cusps "absence of the three fibrous triangular components and associated flaps of the tricuspid valve" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ehmt1tm2Yshk/Ehmt1tm2Yshk,Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic Background: involves: 129S7/SvEvBrd

 MP:0010865 prenatal growth retardation "slow or limited development during the prenatal period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0011049 impaired adaptive thermogenesis "inability or reduced ability to produce heat in response to short term environmental changes, such as stress, diet or reduced temperature, often resulting in metabolic inefficiency or death" [MGI:csmith, PMID:16836744]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

Allelic Composition: Ehmt1tm1Bzhu/Ehmt1tm1Bzhu,Ehmt2tm1Bzhu/Ehmt2tm1Bzhu
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011088 partial neonatal 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 neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Ehmt1tm2Yshk/Ehmt1tm2Yshk,Nkx2-5tm1(cre)Rjs/Nkx2-5+
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: Lmo4tm1.1Gng/Lmo4tm1.1Gng
Genetic Background: involves: 129X1/SvJ

Allelic Composition: Ehmt1Tg(Tyr)2265COve/Ehmt1Tg(Tyr)2265COve
Genetic Background: FVB/N-Ehmt1Tg(Tyr)2265COve

 MP:0011698 abnormal brown adipose tissue physiology "any functional anomaly in the thermogenic form of adipose tissue that is composed of brown adipocytes" [MGI:smb]
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

 MP:0012167 abnormal epigenetic regulation of gene expression "any anomaly in the process that modulates the frequency, rate or extent of gene expression, in which the process is mitotically or meiotically heritable, or is stably self-propagated in the cytoplasm of a resting cell, and does not entail a change in DNA sequence" [GO:0040029]
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Allelic Composition: Ubl4atm1.2Arte/Ubl4atm1.2Arte
Genetic Background: involves: C57BL/6

 MP:0014172 decreased fatty acid oxidation 
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Allelic Composition: Atp6v1b1vtx/Atp6v1b1vtx
Genetic Background: B6.MRL-Atp6v1b1vtx/Kjn

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020235 Fzr1 / Q9R1K5 / Fizzy-related protein homolog / Q9UM11* / fizzy and cell division cycle 20 related 1*  / complex / reaction
 ENSMUSG00000013787 Ehmt2 / Q9Z148 / Histone-lysine N-methyltransferase EHMT2 / Q96KQ7* / euchromatic histone lysine methyltransferase 2*  / complex
 ENSMUSG00000025050 Pcgf6 / Q99NA9 / Polycomb group RING finger protein 6 / Q9BYE7* / polycomb group ring finger 6*  / complex / reaction
 ENSMUSG00000024325 Ring1 / O35730 / E3 ubiquitin-protein ligase RING1 / Q06587* / ring finger protein 1*  / complex / reaction
 ENSMUSG00000022394 P59178 / L3mbtl2 / Lethal(3)malignant brain tumor-like protein 2 / Q969R5* / L3MBTL2, polycomb repressive complex 1 subunit*  / complex / reaction
 ENSMUSG00000029836 Cbx3 / chromobox protein homolog 3 / Q13185* / chromobox 3*  / complex / reaction
 ENSMUSG00000060981 P62806 / Hist1h4h / Histone H4   / reaction
 ENSMUSG00000033943 Mga / A2AWL7 / MAX-associated protein / Q8IWI9* / MGA, MAX dimerization protein*  / reaction / complex
 ENSMUSG00000059552 Trp53 / P02340 / transformation related protein 53 / TP53* / P04637* / tumor protein p53*  / reaction
 ENSMUSG00000099517 P68433 / Hist1h3g / Histone H3.1   / reaction
 ENSMUSG00000057469 E2f6 / O54917 / Transcription factor E2F6 / O75461* / E2F transcription factor 6*  / reaction / complex
 ENSMUSG00000100210 P84228 / Hist1h3f / Histone H3.2   / reaction
 ENSMUSG00000059436 Max / Max protein / P61244* / MYC associated factor X*  / reaction / complex
 ENSMUSG00000038482 Tfdp1 / Q08639 / transcription factor Dp 1 / TFDP3* / Q14186* / Q5H9I0* / transcription factor Dp family member 3*  / reaction / complex
 ENSMUSG00000060743 H3f3a / P84244 / Histone H3.3 / P84243* / H3 histone family member 3A*  / reaction
 ENSMUSG00000026484 Rnf2 / Q9CQJ4 / E3 ubiquitin-protein ligase RING2 / Q99496* / ring finger protein 2*  / reaction / complex
 ENSMUSG00000022634 Yaf2 / Q99LW6 / YY1 associated factor 2 / Q8IY57*  / reaction / complex






 

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