ENSMUSG00000030400


Mus musculus

Features
Gene ID: ENSMUSG00000030400
  
Biological name :Ercc2
  
Synonyms : Ercc2 / O08811 / TFIIH basal transcription factor complex helicase XPD subunit
  
Possible biological names infered from orthology : ERCC excision repair 2, TFIIH core complex helicase subunit / P18074
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: A3
Gene start: 19382010
Gene end: 19395694
  
Corresponding Affymetrix probe sets: 10550674 (MoGene1.0st)   1442253_at (Mouse Genome 430 2.0 Array)   1460727_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000104100
Ensembl peptide - ENSMUSP00000117840
Ensembl peptide - ENSMUSP00000104101
Ensembl peptide - ENSMUSP00000054380
NCBI entrez gene - 13871     See in Manteia.
MGI - MGI:95413
RefSeq - NM_007949
RefSeq Peptide - NP_031975
swissprot - D3Z700
swissprot - F6YA33
swissprot - E9Q6K1
swissprot - O08811
Ensembl - ENSMUSG00000030400
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ercc2ENSDARG00000021985Danio rerio
 ERCC2ENSG00000104884Homo sapiens


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR001945  RAD3/XPD family
 IPR002464  DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
 IPR006554  Helicase-like, DEXD box c2 type
 IPR006555  ATP-dependent helicase, C-terminal
 IPR010614  DEAD2
 IPR010643  Helical and beta-bridge domain
 IPR013020  ATP-dependent helicase Rad3/Chl1-like
 IPR014013  Helicase superfamily 1/2, ATP-binding domain, DinG/Rad3-type
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0001701 in utero embryonic development IMP
 biological_processGO:0006139 nucleobase-containing compound metabolic process IEA
 biological_processGO:0006281 DNA repair IMP
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair IEA
 biological_processGO:0006289 nucleotide-excision repair IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006468 protein phosphorylation IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007059 chromosome segregation ISO
 biological_processGO:0007568 aging IEA
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0009411 response to UV IMP
 biological_processGO:0009650 UV protection IEA
 biological_processGO:0009791 post-embryonic development IMP
 biological_processGO:0021510 spinal cord development IMP
 biological_processGO:0022405 hair cycle process IMP
 biological_processGO:0030198 extracellular matrix organization IMP
 biological_processGO:0030282 bone mineralization IMP
 biological_processGO:0032289 central nervous system myelin formation IMP
 biological_processGO:0032508 DNA duplex unwinding IEA
 biological_processGO:0033683 nucleotide-excision repair, DNA incision IEA
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0035315 hair cell differentiation IEA
 biological_processGO:0040016 embryonic cleavage IMP
 biological_processGO:0043249 erythrocyte maturation IMP
 biological_processGO:0043388 positive regulation of DNA binding IMP
 biological_processGO:0043588 skin development IMP
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048568 embryonic organ development IEA
 biological_processGO:0048820 hair follicle maturation IMP
 biological_processGO:0060218 hematopoietic stem cell differentiation IMP
 biological_processGO:1901990 regulation of mitotic cell cycle phase transition IEA
 cellular_componentGO:0000439 core TFIIH complex IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005669 transcription factor TFIID complex IEA
 cellular_componentGO:0005675 holo TFIIH complex IEA
 cellular_componentGO:0005737 cytoplasm ISS
 cellular_componentGO:0005819 spindle ISO
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0019907 cyclin-dependent protein kinase activating kinase holoenzyme complex IEA
 cellular_componentGO:0071817 MMXD complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0004003 ATP-dependent DNA helicase activity IEA
 molecular_functionGO:0004386 helicase activity IEA
 molecular_functionGO:0004672 protein kinase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008026 ATP-dependent helicase activity IEA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IEA
 molecular_functionGO:0008353 RNA polymerase II carboxy-terminal domain kinase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides IEA
 molecular_functionGO:0043139 5"-3" DNA helicase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IEA


Pathways (from Reactome)
Pathway description
Formation of RNA Pol II elongation complex
Formation of the Early Elongation Complex
Formation of Incision Complex in GG-NER
Dual Incision in GG-NER
RNA Polymerase II Pre-transcription Events
Formation of TC-NER Pre-Incision Complex
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of DNA Repair Genes
mRNA Capping
RNA Polymerase I Transcription Initiation
RNA Polymerase I Promoter Escape
RNA Polymerase II Promoter Escape
RNA Polymerase I Chain Elongation
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
RNA Polymerase I Transcription Termination
RNA Polymerase II Transcription Initiation
RNA Polymerase II Transcription Elongation
RNA Polymerase II Transcription Initiation And Promoter Clearance
RNA Pol II CTD phosphorylation and interaction with CE


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]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000208 decreased hematocrit "less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000313 abnormal cell death "anomalous cessation of function at the cellular level" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000367 abnormal coat/ hair morphology "anomalous color, structure, growth, or texture of the hair" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0000377 abnormal hair follicle "malformed invagination of the epidermis from which the hair shaft develops" [J:65031]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000381 enlarged hair follicles "increased size of the epidermal invaginations from which the hair shaft develops" [J:30249]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000647 abnormal sebaceous gland morphology "malformation of the holocrine glands of the dermis that secrete sebum into the hair follicles" [MGI:tc]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0000652 enlarged sebaceous gland "increased size of the sebum secreting glands of the hair shaft" [J:30249]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001146 abnormal testis morphology "anomalous structure of the male reproductive glands" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001190 reddish skin "skin has a more intense ruddy appearance than normal, often due to capillary congestion" [J:65038]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001192 scaly skin "skin covered with shedding scales or flakes" [J:65146]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001200 thick skin "greater depth of skin " [J:47225]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001202 skin photosensitivity "abnormally heightened reactivity of the skin to sunlight " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001239 abnormal granular layer morphology "structural or developmental anomaly of the layer of flattened cells containing basophilic granules of keratohyalin and lying just above the stratum spinosum (spiny layer) of the epidermis" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001242 hyperkeratosis "increased depth of the corneal layer of the epidermis; thickening of the horny layer of the epidermis" [J:1133]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0001297 microphthalmia "reduced average size of the eyes" [J:18048]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0001303 abnormal lens morphology "malformed transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:40203]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0001304 cataracts "complete or partial opacity of the lens" [J:65031]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0001306 small lens "reduced size of the transparent structure of the eye responsible for focusing light rays" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:49840]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 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]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001417 decreased exploration in new environment "less amount of time spent investigating a new location" [J:79870]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001588 hemoglobin abnormalities "defects in the levels or the function of the oxygen-carrying protein of erythrocytes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001874 acanthosis "diffuse hyperplasia of the spinous layer of the skin" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0001926 female infertility "inability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:34193]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0001928 abnormal ovulation "aberration in the release of an ovum from a rupturing Graafin follicle, normally regulated by a surge in lutenizing hormone" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002007 increased sensitivity to gamma-irradiation "increased incidence of cell death following high levels of gamma-irradiation" [J:51834]
Show

Allelic Composition: Ercc3tm2Jhjh/Ercc3tm2Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002021 increased incidence of induced tumors "higher than normal frequency of tumor incidence induced by a carcinogen or mutagen" [J:44427]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0002427 dwarfism "abnormally undersized with disproportionate body parts" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0002874 decreased hemoglobin content "decrease in the total hemoglobin content in the circulating blood" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002875 decreased erythrocyte count "reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002879 increased sensitivity to X-ray irradiation "increased incidence of cell death following high levels of X-ray irradiation" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002938 white spotting "the appearance of patches of white fur" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0003786 premature aging "earlier than normal occurence of the normal signs of aging" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:97764]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003810 abnormal hair cuticle "anomalies in the thin, smooth and glossy outer protective cell layer of hair shaft" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0003848 brittle hair "hair is susceptible to breakage " [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0003849 greasy coat "fur is oily in appearance or texture" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * 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"]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 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"]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0005311 abnormal circulating amino acid level "aberrant concentration in the blood of these organic compounds, which, when polymerized, form proteins" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:83263]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 MP:0008410 increased cellular sensitivity to ultraviolet irradiation "greater incidence of cell death following exposure to ultraviolet irradiation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd

 MP:0008411 decreased cellular sensitivity to ultraviolet irradiation "reduced incidence of cell death following exposure to ultraviolet irradiation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc2tm1Jmch/Ercc2tm1Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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"]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0008918 microgliosis "a proliferation or spread of microglia in the area of a degenerative lesion or damaged tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0009115 abnormal fat cell morphology "any structural anomaly of a fat-storing cell found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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"]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0010179 rough coat "coat does not have the usual smooth appearance" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0010202 focal dorsal hair loss "focal hair loss on the dorsal area of a rodent resulting in dorsal skin visible in a patch where hair loss occurs" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:Sanger_Karp "Submission from Natasha Karp"]
Show

Allelic Composition: Ercc2tm1Jmch/Ercc2tm1Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0010254 nuclear cataracts "a lens opacity located in the dense, central part of the lens" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", ISBN:978-0-8493-0864-2 "Smith R.S. et al (ed.) Systematic Evaluation of the Mouse Eye: Anatomy, Pathology, and Biomethods"]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0010300 increased skin tumor incidence "greater than the expected number of neoplasms in the skin tissue usually in the form of a distinct mass, in a specific population in a given time period" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

 MP:0010308 decreased tumor latency "earlier onset of tumor occurrence than expected" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

 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]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm3Jhjh/Ercc2tm3Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * FVB

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Ercc3tm2Jhjh/Ercc3tm2Jhjh
Genetic Background: involves: 129P2/OlaHsd * 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]
Show

Allelic Composition: Ercc2tm2(ERCC2)Jhjh/Ercc2tm2(ERCC2)Jhjh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011094 complete embryonic lethality before implantation "death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5)" [MGI:csmith]
Show

Allelic Composition: Scnn1atm1Hum/Scnn1atm1Hum
Genetic Background: involves: 129/Sv

Allelic Composition: Ercc2tm1Jmch/Ercc2tm1Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Ercc2tm2Jmch/Ercc2tm2Jmch
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0011697 vacuolated lens "fluid filled cavities are present in the cytoplasm of the transparent structure of the eye responsible for focusing light" [MGI:llw2]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

 MP:0012734 abnormal response to radiation "any anomaly in the physiological changes induced by ionizing radiation such as UV light, X-rays, or gamma rays" [MPD:Molly]
Show

Allelic Composition: Zfhx3Sci/Zfhx3Sci
Genetic Background: involves: BALB/cOlaHsd * C3H/HeH * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr