ENSMUSG00000003549


Mus musculus

Features
Gene ID: ENSMUSG00000003549
  
Biological name :Ercc1
  
Synonyms : DNA excision repair protein ERCC-1 / Ercc1 / P07903
  
Possible biological names infered from orthology : ERCC excision repair 1, endonuclease non-catalytic subunit / P07992
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: A3
Gene start: 19344778
Gene end: 19356524
  
Corresponding Affymetrix probe sets: 10550650 (MoGene1.0st)   1417328_at (Mouse Genome 430 2.0 Array)   1437447_s_at (Mouse Genome 430 2.0 Array)   1441838_at (Mouse Genome 430 2.0 Array)   1445266_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000125655
Ensembl peptide - ENSMUSP00000135161
Ensembl peptide - ENSMUSP00000135767
Ensembl peptide - ENSMUSP00000003645
Ensembl peptide - ENSMUSP00000135021
NCBI entrez gene - 13870     See in Manteia.
MGI - MGI:95412
RefSeq - XM_006539539
RefSeq - NM_001127324
RefSeq - NM_007948
RefSeq Peptide - NP_001120796
RefSeq Peptide - NP_031974
swissprot - E9PUM0
swissprot - H3BJK4
swissprot - H3BLF5
swissprot - H3BJX2
swissprot - P07903
Ensembl - ENSMUSG00000003549
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ercc1ENSDARG00000031680Danio rerio
 ERCC1ENSG00000012061Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004579  ERCC1/RAD10/SWI10 family
 IPR010994  RuvA domain 2-like
 IPR011335  Restriction endonuclease type II-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000710 meiotic mismatch repair IBA
 biological_processGO:0000720 pyrimidine dimer repair by nucleotide-excision repair IMP
 biological_processGO:0001302 replicative cell aging IMP
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006289 nucleotide-excision repair IEA
 biological_processGO:0006295 nucleotide-excision repair, DNA incision, 3"-to lesion IEA
 biological_processGO:0006296 nucleotide-excision repair, DNA incision, 5"-to lesion IEA
 biological_processGO:0006302 double-strand break repair IMP
 biological_processGO:0006303 double-strand break repair via nonhomologous end joining IEA
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006312 mitotic recombination IEA
 biological_processGO:0006949 syncytium formation IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IMP
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007281 germ cell development IMP
 biological_processGO:0007283 spermatogenesis IMP
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0008584 male gonad development IMP
 biological_processGO:0009650 UV protection IMP
 biological_processGO:0009744 response to sucrose IEA
 biological_processGO:0010165 response to X-ray IMP
 biological_processGO:0010259 multicellular organism aging IMP
 biological_processGO:0032205 negative regulation of telomere maintenance IEA
 biological_processGO:0035166 post-embryonic hemopoiesis IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0035902 response to immobilization stress IEA
 biological_processGO:0036297 interstrand cross-link repair IMP
 biological_processGO:0045190 isotype switching IMP
 biological_processGO:0046686 response to cadmium ion IEA
 biological_processGO:0048468 cell development IMP
 biological_processGO:0048477 oogenesis IMP
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0051276 chromosome organization IMP
 biological_processGO:0061819 telomeric DNA-containing double minutes formation IEA
 biological_processGO:0070914 UV-damage excision repair IBA
 biological_processGO:0090656 t-circle formation IMP
 biological_processGO:1904431 positive regulation of t-circle formation IMP
 biological_processGO:1905765 negative regulation of protection from non-homologous end joining at telomere IEA
 cellular_componentGO:0000109 nucleotide-excision repair complex IEA
 cellular_componentGO:0000110 nucleotide-excision repair factor 1 complex IEA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005669 transcription factor TFIID complex IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0070522 ERCC4-ERCC1 complex IEA
 molecular_functionGO:0000014 single-stranded DNA endodeoxyribonuclease activity IEA
 molecular_functionGO:0001094 TFIID-class transcription factor binding IDA
 molecular_functionGO:0003677 DNA binding ISO
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0003697 single-stranded DNA binding IEA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004519 endonuclease activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019904 protein domain specific binding IEA
 molecular_functionGO:1990599 3" overhang single-stranded DNA endodeoxyribonuclease activity IEA


Pathways (from Reactome)
Pathway description
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Fanconi Anemia Pathway


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0000352 decreased cell proliferation "less than the normal growth and reproduction of similar cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0000607 abnormal hepatocyte morphology "malformation of the main structural component of the liver; these are specialized epithelial cells normally organize into interconnected plates called lobules" [J:23170, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc1tm1Dwm/Ercc1tm2Dwm,Hrhr/Hrhr,Tg(KRT5-cre)5132Jlj/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J * MF1

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Ercc1tm1Dwm/Ercc1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 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: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000694 spleen hypoplasia "small size due to reduced cell number in the spleen" [J:43971]
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Allelic Composition: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001130 abnormal ovarian folliculogenesis "atypical formation or failure to form the spherical ovum in the ovary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:35782]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0001199 thin skin "reduced thickness of the outer protective layer of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49471]
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Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001203 skin irradiation sensitivity "increased incidence of aberrant or damaged cells due to irradiation induced genotoxic damage" [J:65162]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm2Dwm,Hrhr/Hrhr,Tg(KRT5-cre)5132Jlj/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J * MF1

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
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Allelic Composition: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001731 abnormal postnatal growth "anomaly in reaching a developmental stage or stages after birth" [il:Ira Lu, Mouse Genome Informatics Curator]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 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: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
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Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0001929 abnormal gametogenesis "defective formation or differentiation of germ cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:42324]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 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: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * FVB

Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0002136 abnormal kidney physiology "altered ability or inability to excrete urine, not due to anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: En1tm2(cre)Wrst/?,Gt(ROSA)26Sortm5(CAG-EGFP,-lacZ)Dym/?,Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Tg(Fev-flpe)1Dym/?
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0002209 germ cell depletion "reduced numbers of any of the reproductive (generative) cells of a multicellular organism, whether they are undifferentiated or fully differentiated" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 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: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 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: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002727 decreased circulating insulin level "less than normal levels of insulin in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, dlb:Donna Burkart , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0002962 increased protein excretion "greater than the normal amount of serum proteins voided by the kidneys" [RGD:Rat Genome Database submission]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0003031 acidosis "a pathological state characterized by an increase in the hydrogen ion concentration of arterial blood; caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the body fluids" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0003103 liver degeneration "deterioration of the liver due to injury or disease, often accompanied by loss of function" [smb:Susan M. Bello, Mouse Genome Informatics Curator, J:91653]
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Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0003111 abnormal nucleus morphology "abnormalities in the nucleus and/or its surrounding membrane" [J:91473, smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0003325 decreased liver function "reduced normal function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [ncbi:Matthew Mailman, NCBI request, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Ercc1tm1Dwm/Ercc1+
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0003606 kidney failure "cessation of renal function" [ncbi:Matthew Mailman, NCBI request]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0003786 premature aging "earlier than normal occurence of the normal signs of aging" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:97764]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0003887 increased hepatocyte apoptosis "increase in the number of hepatocytes undergoing programmed cell death" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 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: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0004001 decreased hepatocyte proliferation "reduced growth and reproduction of hepatocyte cells of the liver" [anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0004023 abnormal chromosome number "chromosome count is other than the expected diploid chromosome number" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0004024 aneuploidy "chromosome count is not an exact multiple of the haploid number " [llw2:Linda Washburn , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 MP:0004025 polyploidy "more than two chromosome sets are present" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0004201 fetal growth retardation "slow or limited development during the fetal period (sensu Mus: from E14 through birth)" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0004501 increased incidence of UV-induced tumors "higher than normal frequency of tumor incidence induced by exposure to ultraviolet light" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm2Dwm,Hrhr/Hrhr,Tg(KRT5-cre)5132Jlj/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J * MF1

 MP:0004701 decreased circulating insulin-like growth factor I level "reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0004810 decreased hematopoietic stem cell number "reduced cell count of the multipotent, self-renewing stem cells found in the bone marrow and the fetal liver; these give rise to all the types of both the myeloid and lymphoid cell lineages" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0004816 abnormal class switch recombination "anomaly in the rearrangement of the heavy chain genes of differentiating B cells such that the initially encoded heavy chain IgM molecule is altered to one encoding IgG, IgA or IgE; normally, this allows the body to produce antibodies with different effector functions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0004819 decreased skeletal muscle mass "reduction in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005093 impaired B cell proliferation "absent or reduced ability of B cells to grow and divide in response to stimuli " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0005323 dystonia "impairment of muscle tone resulting in prolonged muscle contraction and involuntary movements such as repetitive movements, or twisting or writhing of the limbs" [J:84533]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005560 decreased circulating glucose level "less than the normal concentration in the blood of this major monosaccharide of the body; it is an important energy source" [RGD:Rat Genome Database submission, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0008008 early cellular replicative senescence "increase in the progression of the process in which a cell progresses from its inception to the end of its lifespan, which occurs as the cell continues cycles of growth and division" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0008280 male germ cell apoptosis "presence of male germs cells that undergo programmed cell death" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0008412 increased cellular sensitivity to oxidative stress "greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0008813 decreased common myeloid progenitor cell number "reduced number of progenitor cells committed to myeloid lineage, including the megakaryocyte and erythroid lineages" [CL:0000049, MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0008844 decreased subcutaneous adipose tissue amount "reduction in amount of adipose tissue beneath the skin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008873 increased sensitivity to xenobiotics "decrease in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008973 decreased erythroid progenitor cell number "reduced numbers of progenitors of the erythrocyte lineage" [CL:0000038, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 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: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 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: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Allelic Composition: Ercc1tm1Dwm/Ercc1tm2Dwm,Hrhr/Hrhr,Tg(KRT5-cre)5132Jlj/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J * MF1

 MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality "decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011083 complete lethality at weaning "premature death at weaning age of all organisms of a given genotype in a population, often due to the inability to make the transition to solid food" [MGI:csmith]
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Allelic Composition: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 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: Psen1tm1Pcw/Psen1tm1Pcw,Psen2tm1Ber/Psen2+
Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

 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: Ercc1tm1Dwm/Ercc1tm2Dwm,Hrhr/Hrhr,Tg(KRT5-cre)5132Jlj/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * DBA/2J * MF1

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0011108 partial embryonic lethality during organogenesis "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 embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
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Allelic Composition: F9tm2(F9)Dws/F9tm2(F9)Dws
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0013405 increased circulating lactate level "greater amount of lactate in the blood which is produced from pyruvate by lactate dehydrogenase" [MPD:Molly]
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Allelic Composition: Ercc1tm1Dwm/Ercc1tm1Dwm,Tg(Ttr-Ercc1)17Dwm/0
Genetic Background: involves: 129P2/OlaHsd * BALB/c

 MP:0013697 decreased granulocyte monocyte progenitor cell number "reduction in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1" [CL:0000557, PMID:16551251]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

 MP:0013705 decreased megakaryocyte-erythroid progenitor cell number "reduced number of a progenitor cell committed to the megakaryocyte and erythroid lineages" [CL:0000050]
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Allelic Composition: Ercc1tm1Jhjh/Ercc1tm1Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm2Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

Allelic Composition: Ercc1tm1Jhjh/Ercc1tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000751 Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*  / reaction / complex
 ENSMUSG00000012483 Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*  / reaction / complex
 ENSMUSG00000026048 Ercc5 / ERCC excision repair 5, endonuclease / P28715*  / reaction / complex
 ENSMUSG00000022545 Ercc4 / Q9QZD4 / DNA repair endonuclease XPF / Q92889* / ERCC excision repair 4, endonuclease catalytic subunit*  / complex / reaction
 ENSMUSG00000040455 Usp45 / Q8K387 / ubiquitin specific petidase 45 / Q70EL2* / ubiquitin specific peptidase 45*  / reaction
 ENSMUSG00000028884 Rpa2 / replication protein A2 / P15927*  / reaction / complex






 

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