ENSMUSG00000031583


Mus musculus

Features
Gene ID: ENSMUSG00000031583
  
Biological name :Wrn
  
Synonyms : O09053 / Werner syndrome RecQ like helicase / Wrn
  
Possible biological names infered from orthology : Q14191
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: A3
Gene start: 33234384
Gene end: 33385527
  
Corresponding Affymetrix probe sets: 10578071 (MoGene1.0st)   1425074_at (Mouse Genome 430 2.0 Array)   1425982_a_at (Mouse Genome 430 2.0 Array)   1450163_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000033990
Ensembl peptide - ENSMUSP00000033991
Ensembl peptide - ENSMUSP00000147379
NCBI entrez gene - 22427     See in Manteia.
MGI - MGI:109635
RefSeq - XM_017312662
RefSeq - NM_001122822
RefSeq - NM_011721
RefSeq - XM_006509091
RefSeq - XM_006509093
RefSeq Peptide - NP_001116294
RefSeq Peptide - NP_035851
swissprot - O09053
swissprot - A0A1B0GR54
Ensembl - ENSMUSG00000031583
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 wrnENSDARG00000098211Danio rerio
 WRNENSGALG00000040909Gallus gallus
 WRNENSG00000165392Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Blm / O88700 / Bloom syndrome protein homolog / P54132* / Bloom syndrome RecQ like helicase*ENSMUSG0000003052819
Q8VID5 / Recql5 / ATP-dependent DNA helicase Q5 / O94762* / RecQ like helicase 5*ENSMUSG0000002075215
Recql4 / RecQ like helicase 4ENSMUSG0000003376214
Recql / Q9Z129 / RecQ protein-like / P46063* / RecQ like helicase*ENSMUSG0000003024312


Protein motifs (from Interpro)
Interpro ID Name
 IPR001650  Helicase, C-terminal
 IPR002121  HRDC domain
 IPR002562  3"-5" exonuclease domain
 IPR004589  DNA helicase, ATP-dependent, RecQ type
 IPR010997  HRDC-like superfamily
 IPR011545  DEAD/DEAH box helicase domain
 IPR012337  Ribonuclease H-like superfamily
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR018982  RQC domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR029491  Helicase Helix-turn-helix domain
 IPR032284  ATP-dependent DNA helicase RecQ, zinc-binding domain
 IPR036388  Winged helix-like DNA-binding domain superfamily
 IPR036390  Winged helix DNA-binding domain superfamily
 IPR036397  Ribonuclease H superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0000724 double-strand break repair via homologous recombination IBA
 biological_processGO:0000731 DNA synthesis involved in DNA repair IEA
 biological_processGO:0001302 replicative cell aging IMP
 biological_processGO:0006139 nucleobase-containing compound metabolic process IEA
 biological_processGO:0006259 DNA metabolic process IEA
 biological_processGO:0006260 DNA replication IGI
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006284 base-excision repair IEA
 biological_processGO:0006302 double-strand break repair IEA
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus ISO
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007569 cell aging IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0009267 cellular response to starvation IEA
 biological_processGO:0010225 response to UV-C IEA
 biological_processGO:0010259 multicellular organism aging IEA
 biological_processGO:0031297 replication fork processing IEA
 biological_processGO:0032508 DNA duplex unwinding IEA
 biological_processGO:0040009 regulation of growth rate IMP
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0044237 cellular metabolic process IEA
 biological_processGO:0044806 G-quadruplex DNA unwinding IMP
 biological_processGO:0051345 positive regulation of hydrolase activity IEA
 biological_processGO:0061820 telomeric D-loop disassembly IEA
 biological_processGO:0071480 cellular response to gamma radiation IEA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:0098530 positive regulation of strand invasion IEA
 biological_processGO:1902570 protein localization to nucleolus ISO
 cellular_componentGO:0000781 chromosome, telomeric region IMP
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005657 replication fork IMP
 cellular_componentGO:0005730 nucleolus ISS
 cellular_componentGO:0005737 cytoplasm IBA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0016607 nuclear speck IEA
 cellular_componentGO:0032389 MutLalpha complex IEA
 cellular_componentGO:0043005 neuron projection IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IEA
 molecular_functionGO:0000400 four-way junction DNA binding IEA
 molecular_functionGO:0000403 Y-form DNA binding IEA
 molecular_functionGO:0000405 bubble DNA binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding ISO
 molecular_functionGO:0003678 DNA helicase activity IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IEA
 molecular_functionGO:0004386 helicase activity ISO
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004527 exonuclease activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008026 ATP-dependent helicase activity IEA
 molecular_functionGO:0008408 3"-5" exonuclease activity ISS
 molecular_functionGO:0009378 four-way junction helicase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0030145 manganese ion binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043138 3"-5" DNA helicase activity IEA
 molecular_functionGO:0043140 ATP-dependent 3"-5" DNA helicase activity IBA
 molecular_functionGO:0044877 protein-containing complex binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051880 G-quadruplex DNA binding IEA
 molecular_functionGO:0061749 forked DNA-dependent helicase activity IEA
 molecular_functionGO:0061821 telomeric D-loop binding IEA
 molecular_functionGO:0070337 3"-flap-structured DNA binding IEA
 molecular_functionGO:1905773 8-hydroxy-2"-deoxyguanosine DNA binding IEA


Pathways (from Reactome)
Pathway description
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000013 abnormal fat distribution "alterations in the normal placement and amount of body fat" [J:57315]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129S2/SvPas * BALB/c

 MP:0000061 fragile skeleton "easily damaged or broken bones" [J:14208]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0000066 osteoporosis "reduction in bone mass or atrophy of skeletal tissue; may lead to skeletal fragility" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0000111 cleft palate "congenital fissure of the tissues normally uniting to form the palate" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
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Allelic Composition: Fgf8tm1.4Mrt/Fgf8+,Tfap2atm1Will/Tfap2atm2.1Will
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss

 MP:0000135 reduced cortical bone thickness "thinner than normal superficial layer of compact bone " [J:61509]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 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: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0000414 alopecia "absence of hair or loss of hair; not usually in reference to primary genetic hairlessness but may be due to dietary, stress, secondary to immune condition" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:30772, J:33796]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0000490 abnormal crypts of Lieberkuhn morphology "malformation or defects in the tubular intestinal glands found in the mucosal membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129S2/SvPas * BALB/c

 MP:0000559 abnormal femur morphology "structural anomaly of the long bone of the thigh" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0000642 enlarged adrenal glands "increased size of the endocrine gland" [J:40203]
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Allelic Composition: Fgf8tm1.4Mrt/Fgf8+,Tfap2atm1Will/Tfap2atm2.1Will
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss

 MP:0001116 small gonad "reduced size of the testis or the ovary" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0001147 small testis "reduced size of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58959]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Erbb2tm1Vrtn/Erbb2tm1Vrtn
Genetic Background: Not Specified

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0001533 abnormal skeleton physiology "anomalous function of the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Trp53tm1Tyj/Trp53tm1Tyj,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129S2/SvPas * BALB/c

 MP:0001548 hyperlipidemia "abnormally high concentration of lipids in the circulating blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0001552 increased circulating triglyceride level "higher than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:65416]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0001559 hyperglycemia "abnormally high concentration of glucose in the blood; generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0001792 impaired wound healing "reduced ability or inability to self-repair and close wounds" [J:65302, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0001823 thymus hypoplasia "small size due to reduced cell number in the thymus" [J:23255]
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Allelic Composition: Fgf8tm1.4Mrt/Fgf8+,Tfap2atm1Will/Tfap2atm2.1Will
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss

 MP:0001853 heart inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the heart" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Wrntm1Led/Wrntm1Led
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002014 papilloma "benign epithelial tumor" [J:47225]
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Allelic Composition: Erbb2tm1Vrtn/Erbb2tm1Vrtn
Genetic Background: Not Specified

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
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Allelic Composition: Crabp1tm1Ipc/Crabp1tm1Ipc
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Cdkn1atm1Led/Cdkn1atm1Led,Wrntm1Led/Wrntm1Led
Genetic Background: either: (involves: 129S6/SvEvTac) or (involves: 129S6/SvEvTac * NIH Black Swiss)

Allelic Composition: Trp53tm1Brd/Trp53tm1Brd,Wrntm1Led/Wrntm1Led
Genetic Background: either: (involves: 129S/SvEv) or (involves: 129S/SvEv * NIH Black Swiss)

Allelic Composition: Wrntm1Led/Wrntm1Led
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002032 sarcoma "connective tissue neoplasm associated with the proliferation of mesodermal cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 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: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 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: Foxa2tm1Jrt/Foxa2tm1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0002397 abnormal bone marrow morphology "structural anomalies in the soft tissue that fills the cavities of bones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0002406 increased susceptibility to infection "greater likelihood that an organism will develop ill effects from a pathogenic invasion or from components of or toxins produced by pathogens " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0002908 delayed wound healing "longer time requirement for the ability to self-repair and close wounds than normal" [J:63037]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0002925 abnormal cardiovascular development "aberrant formation or incomplete differentiation of the cardiovascular system" [RGD:Rat Genome Database submission]
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Allelic Composition: Fgf8tm1.4Mrt/Fgf8+,Tfap2atm1Will/Tfap2atm2.1Will
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss

 MP:0003155 abnormal telomere length "abnormal length of the terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability; normal length is a few hundred base pairs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0003212 susceptibility to age related obesity "increased probability of excessive weight gain that is progressive with age" [RGD:Rat Genome Database submission]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0003702 abnormal chromosome morphology "anomalies in the structure of the compact, intertwined molecules of DNA found in the nucleus which carry genetic information " [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 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: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0003789 osteosarcoma "malignant neoplasm derived from bone" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0003797 abnormal compact bone morphology "structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0003820 increased left ventricle systolic pressure "increase in the pressure in the left ventricle as the heart contracts and pumps blood into the arteries" [RGD:Rat Genome Database submission]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0004499 increased incidence of chemically-induced tumors "higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Erbb2tm1Vrtn/Erbb2tm1Vrtn
Genetic Background: Not Specified

 MP:0004984 increased osteoclast cell number "greater than average number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp
Genetic Background: B6J.Cg-Terctm1Rdp

 MP:0005048 thrombosis "formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements " [Pathology:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Wrntm1Led/Wrntm1Led
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 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: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 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: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0005608 cardiac interstitial fibrosis "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

Allelic Composition: Wrntm1Led/Wrntm1Led
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

Allelic Composition: Wrntm1Led/Wrn+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Foxa2tm1Jrt/Foxa2tm1Jrt
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0006117 aortic valve stenosis "abnormal narrowing of the aortic valve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0006263 decreased diastolic blood pressure "abnormal decrease in the pressure in the arteries between heart beats when the heart is relaxed" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator, J:21887]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0008271 abnormal bone ossification "any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 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: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 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: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0009292 increased inguinal fat pad weight 
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0009304 increased retroperitoneal fat pad weight 
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0009346 decreased cancellous bone thickness "thinner than normal bone with a lattice-like or spongy structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

 MP:0010308 decreased tumor latency "earlier onset of tumor occurrence than expected" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Trp53tm1Brd/Trp53tm1Brd,Wrntm1Led/Wrntm1Led
Genetic Background: either: (involves: 129S/SvEv) or (involves: 129S/SvEv * NIH Black Swiss)

 MP:0010484 bicuspid aortic valve "the presence of two cusps in the aortic valve instead of three" [http://emedicine.medscape.com]
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Allelic Composition: Fgf8tm1.4Mrt/Fgf8+,Tfap2atm1Will/Tfap2atm2.1Will
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss

 MP:0010527 bicuspid pulmonary valve "the presence of two cusps or leaflets in the pulmonary valve instead of three" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Fgf8tm1.4Mrt/Fgf8+,Tfap2atm1Will/Tfap2atm2.1Will
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * Black Swiss

 MP:0010867 abnormal bone trabecula morphology "any structural anomaly of the network of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0010869 decreased bone trabecula number "decreased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0010873 decreased trabecular bone mass "reduced total amount of trabecular bone tissue contained in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0010876 decreased bone volume "reduced amount of space occupied by bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

Allelic Composition: Wrntm1Lgu/Wrntm1Lgu
Genetic Background: B6J.Cg-Wrntm1Lgu

 MP:0010924 abnormal osteoid morphology "any structural anomaly of newly formed organic bone matrix secreted by osteoblasts, that exists prior to calcification; it is comprised mainly of type I collagen fibers, chondroitin sulfate and osteocalcin" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0010968 decreased compact bone area "reduction in the total amount of cross-sectional area of compact bone tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
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Allelic Composition: Crabp1tm1Ipc/Crabp1tm1Ipc
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0013630 increased bone trabecular spacing "increase in the amount of space between trabeculae in cancellous bone" [MGI:jwhite]
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Allelic Composition: Terctm1Rdp/Terctm1Rdp,Wrntm1Lgu/Wrntm1Lgu
Genetic Background: involves: 129/Sv * BALB/c * C57BL/6 * SLJ

 MP:0020411 increased abdominal adipose tissue amount "increase in amount of adipose tissue associated with internal organs" [MGI:anna]
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Allelic Composition: Tlr4tm1Aki/Tlr4tm1Aki,Tlr5tm1Flv/Tlr5tm1Flv
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000751 Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*  / complex / reaction
 ENSMUSG00000017146 Brca1 / P48754 / Breast cancer type 1 susceptibility protein homolog / P38398* / BRCA1, DNA repair associated*  / complex / reaction
 ENSMUSG00000020380 Rad50 / RAD50 double strand break repair protein / Q92878* / AC116366.3*  / complex / reaction
 ENSMUSG00000012483 Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*  / complex / reaction
 ENSMUSG00000026196 Bard1 / O70445 / BRCA1-associated RING domain protein 1 / Q99728* / BRCA1 associated RING domain 1*  / reaction / complex
 ENSMUSG00000028224 Nbn / Q9R207 / Nibrin / O60934*  / complex / reaction
 ENSMUSG00000026021 Sumo1 / P63166 / Small ubiquitin-related modifier 1 / P63165* / small ubiquitin-like modifier 1*  / complex
 ENSMUSG00000032409 Atr / ATR serine/threonine kinase / Q13535*  / reaction / complex
 ENSMUSG00000034329 Brip1 / Q5SXJ3 / Fanconi anemia group J protein homolog / Q9BX63* / BRCA1 interacting protein C-terminal helicase 1*  / reaction / complex
 ENSMUSG00000036875 Dna2 / Q6ZQJ5 / DNA replication ATP-dependent helicase/nuclease DNA2 DNA replication nuclease DNA2 DNA replication ATP-dependent helicase DNA2 / P51530* / DNA replication helicase/nuclease 2*  / complex
 ENSMUSG00000024926 Kat5 / Q8CHK4 / Histone acetyltransferase KAT5 / Q92993* / lysine acetyltransferase 5*  / complex / reaction
 ENSMUSG00000025646 Atrip / Q8BMG1 / ATR-interacting protein / Q8WXE1*  / reaction / complex
 ENSMUSG00000034218 Atm / Q62388 / Serine-protein kinase ATM / Q13315* / ATM serine/threonine kinase*  / complex / reaction
 ENSMUSG00000031928 Mre11a / Q61216 / Double-strand break repair protein MRE11 / MRE11* / P49959* / MRE11 homolog, double strand break repair nuclease*  / complex / reaction
 ENSMUSG00000041238 Rbbp8 / Q80YR6 / retinoblastoma binding protein 8, endonuclease / Q99708* / RB binding protein 8, endonuclease*  / complex / reaction
 ENSMUSG00000028884 Rpa2 / replication protein A2 / P15927*  / reaction / complex






 

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