ENSMUSG00000054051


Mus musculus

Features
Gene ID: ENSMUSG00000054051
  
Biological name :Ercc6
  
Synonyms : Ercc6 / ERCC excision repair 6, chromatin remodeling factor
  
Possible biological names infered from orthology : P0DP91 / Q03468 / Q8N328
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: B
Gene start: 32513521
Gene end: 32580990
  
Corresponding Affymetrix probe sets: 10413897 (MoGene1.0st)   1442604_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000066256
Ensembl peptide - ENSMUSP00000154246
NCBI entrez gene - 319955     See in Manteia.
MGI - MGI:1100494
RefSeq - XM_006519126
RefSeq - NM_001081221
RefSeq - XM_006519124
RefSeq - XM_006519125
RefSeq - XM_006519120
RefSeq - XM_006519121
RefSeq - XM_006519122
RefSeq - XM_006519123
RefSeq Peptide - NP_001074690
swissprot - F8VPZ5
Ensembl - ENSMUSG00000054051
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ercc6ENSDARG00000075612Danio rerio
 ERCC6ENSGALG00000006254Gallus gallus
 ERCC6ENSG00000225830Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ercc6l / Q8BHK9 / DNA excision repair protein ERCC-6-like / Q2NKX8* / ERCC excision repair 6 like, spindle assembly checkpoint helicase*ENSMUSG0000005122018
Q9JIM3 / Ercc6l2 / DNA excision repair protein ERCC-6-like 2 / Q5T890* / ERCC excision repair 6 like 2*ENSMUSG0000002147013


Protein motifs (from Interpro)
Interpro ID Name
 IPR000330  SNF2-related, N-terminal domain
 IPR001650  Helicase, C-terminal
 IPR014001  Helicase superfamily 1/2, ATP-binding domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000303 response to superoxide IMP
 biological_processGO:0006281 DNA repair IMP
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair IEA
 biological_processGO:0006284 base-excision repair IEA
 biological_processGO:0006290 pyrimidine dimer repair IMP
 biological_processGO:0006362 transcription elongation from RNA polymerase I promoter IMP
 biological_processGO:0006974 cellular response to DNA damage stimulus IMP
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007256 activation of JNKK activity IMP
 biological_processGO:0007257 activation of JUN kinase activity IMP
 biological_processGO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage IMP
 biological_processGO:0009411 response to UV IEA
 biological_processGO:0009636 response to toxic substance IMP
 biological_processGO:0010165 response to X-ray IMP
 biological_processGO:0010224 response to UV-B IMP
 biological_processGO:0010332 response to gamma radiation IMP
 biological_processGO:0032784 regulation of DNA-templated transcription, elongation IEA
 biological_processGO:0032786 positive regulation of DNA-templated transcription, elongation IEA
 biological_processGO:0035264 multicellular organism growth IGI
 biological_processGO:0045494 photoreceptor cell maintenance IMP
 biological_processGO:0061098 positive regulation of protein tyrosine kinase activity IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0008023 transcription elongation factor complex IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0005524 ATP binding ISO
 molecular_functionGO:0008022 protein C-terminus binding IEA
 molecular_functionGO:0008094 DNA-dependent ATPase activity IEA
 molecular_functionGO:0030296 protein tyrosine kinase activator activity IEA
 molecular_functionGO:0044877 protein-containing complex binding IEA
 molecular_functionGO:0047485 protein N-terminus binding IEA


Pathways (from Reactome)
Pathway description
B-WICH complex positively regulates rRNA expression
Formation of TC-NER Pre-Incision Complex
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
RNA Polymerase I Transcription Initiation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000010 abnormal abdominal fat pads "malformed or aberrant size of the encapsulated adipose tissue in the abdomen" [J:65146]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0000189 hypoglycemia "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0000548 long limbs "increased average length of the extremities" [tc:Teresa Chu , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 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]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0000854 abnormal cerebellum development "malformed or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0000875 abnormal cerebellar Purkinje cell layer "any malformation or absence of the cell layer that lies just underneath the molecular layer of the cerebellar cortex; it contains the neuronal cell bodies of the Purkinje cells that are arranged side by side in a single layer, and candelabrum interneurons are vertically oriented between the Purkinje cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

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

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0000890 thin cerebellar molecular layer "reduced width of the outer of the three cortical layers of the cerebellum" [J:46854]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001202 skin photosensitivity "abnormally heightened reactivity of the skin to sunlight " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(CAG-cre)13Miya/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001394 circling "repeated, compulsive movement in a circle; often associated with inner ear defects" [MGI:CLS, J:61295]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(CAG-cre)13Miya/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001407 short stride length "reduced average distance between steps" [J:34193]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 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]
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Allelic Composition: Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: C57BL/6 * CBA

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 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]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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: Isl2tm3.1(Mnx1-Lhx3)Slp/Isl2+,Tg(Mnx1-GFP)1Slp/?
Genetic Background: Not Specified

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(CAG-cre)13Miya/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0001999 photosensitivity "alterations in the response to sunlight or UV irradiation, especially sensitivity of the eyes" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0002007 increased sensitivity to gamma-irradiation "increased incidence of cell death following high levels of gamma-irradiation" [J:51834]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0002021 increased incidence of induced tumors "higher than normal frequency of tumor incidence induced by a carcinogen or mutagen" [J:44427]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(CAG-cre)13Miya/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0002175 low brain weight "lower than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 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]
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Allelic Composition: Isl2tm3.1(Mnx1-Lhx3)Slp/Isl2+,Tg(Mnx1-GFP)1Slp/?
Genetic Background: Not Specified

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0002797 thigmotaxis "preference of a mouse for the side walls of a cage or box; usually an indicator of increased anxiety response" [J:56814]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 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]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

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

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 MP:0004097 abnormal cerebellar cortex morphology "any structural anomaly of the thin mantle of gray matter that covers the surface of each cerebral hemisphere, including the six layers of nerve cells and the nerve pathways that connect them; together, these regions are responsible for the processes of conscious thought, perception, emotion and memory as well as advanced motor function" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0004102 abnormal dorsal striatum morphology "any structural abnormality of the regions of the caudate nucleus and the putamen that lie dorsal to the anterior commissure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0004263 abnormal limb posture "atypical position of the limbs compared to the normal carriage of the body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0004398 cochlear inner hair cell degeneration "degeneration or loss of the single row of flask-shaped inner hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0004404 cochlear outer hair cell degeneration "degeneration or loss of the columnar outer hair sensory cells of the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0004465 degeneration of supporting cells "degeneration or loss of the highly differentiated epithelial cells with distinctive morphological features that surround all hair cells in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0004586 pillar cell degeneration "degeneration or loss of the supporting cells that form the inner and outer walls of the tunnel in the organ of Corti" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0004628 Dieters cell degeneration "degeneration or loss of the supporting cells of the spiral organ which are attached to the basement membrane and receive the hair cells between their free extremities" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0004736 abnormal distortion product otoacoustic emission "any abnormality in the sound produced by the cochlea in response to stimulation with 2 simultaneous tones of different frequencies; this measurement is particularly useful in assessing the functional state of OHCs" [eMedicine:http://www.emedicine.com/ent/topic372.htm, MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

 MP:0005150 cachexia "general weight loss and wasting occurring in the course of chronic disease" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Isl2tm3.1(Mnx1-Lhx3)Slp/Isl2+,Tg(Mnx1-GFP)1Slp/?
Genetic Background: Not Specified

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(CAG-cre)13Miya/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Pcp2-cre)2Mpin/0
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J

 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: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0006099 thin granule layer "reduced thickness of the innermost cortical layer of the cerebellum that contains granule cells" [smb:Susan M Bello, Mouse Genome Informatics Curator, anna:Anna Anagnostopoulos, Mouse Genome Informatics Curator, J:65410]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0006325 impaired hearing "reduced ability to percieve auditory stimuli" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * CBA/CaJ

 MP:0006395 abnormal epiphyseal plate morphology "any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 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"]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008489 postnatal slow weight gain "the weight gain over a span of postnatal developmental time is slower than controls, with or without ever attaining a similar weight to controls as adults" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0008547 abnormal neocortex morphology "any structural anomaly of the larger part of the mammalian cerebral cortex, distinguished from the allocortex by being composed of a larger number of nerve cells arranged in six layers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.186.211.730.885.213.420]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0008917 abnormal oligodendrocyte physiology "any functional anomaly of the neuroglia of the central nervous system that form the insulating myelin sheath of axons in the CNS" [MESH:A08.637.600]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 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"]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

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

 MP:0009719 reduced cerebellar foliation "the cerebellar lobules are reduced in size or number" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0009796 abnormal base-excision repair "any anomaly in the process whereby an altered base is removed by a DNA glycosylase enzyme, followed by excision of the resulting sugar phosphate; the small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase" [GO:0006284]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0010400 increased liver glycogen level "greater than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Brd/Xpctm1Brd
Genetic Background: involves: 129P2/OlaHsd * 129S7/SvEvBrd

 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: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(CAG-cre)13Miya/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

 MP:0011090 partial perinatal 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 perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129 * 129P2/OlaHsd * C57BL/6J

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011174 lipodystrophy "abnormal or degenerative conditions of the body s adipose tissue resulting in bodily or focal loss and the appearance of redistribution of fat tissue; adipose tissue loss may be total, partial, or localized" [MGI:csmith]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Hvs/Xpatm1Hvs
Genetic Background: B6.129P2-Xpatm1Hvs Ercc6tm1Gvh

 MP:0011967 increased or absent threshold for auditory brainstem response "increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency or broadband click" [MGI:csmith]
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Allelic Composition: Pkd1tm1.1Pcha/Pkd1+,Pkd2tm1Som/Pkd2tm2Som
Genetic Background: involves: 129 * 129/Sv * C57BL/6 * C57BL/6J * SJL

Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh
Genetic Background: involves: 129P2/OlaHsd * CBA/CaJ

 MP:0013551 decreased cerebellar granule cell precursor proliferation "reduction in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division" [MGI:csmith]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Tnka/Xpatm1Tnka
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * CBA

 MP:0013787 photophobia " abnormal aversion or avoidance behavior in response to light; photophobia is symptom of abnormal intolerance to visual perception of light; as a medical symptom, photophobia is not a morbid fear or phobia, but an experience of discomfort or pain to the eyes due to light exposure or by presence of actual physical sensitivity of the eyes" [http://en.wikipedia.org/wiki/Photophobia, MGI:Anna]
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Allelic Composition: Ccne1tm1Jro/?,Krastm3Tyj/?
Genetic Background: either: (involves: 129S4/SvJaeSor) or (involves: 129S4/SvJaeSor * C57BL/6)

 MP:0030003 hippocampus atrophy "acquired diminution of the size of the hippocampus associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal change" [MGI:anna]
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Allelic Composition: Ercc6tm1Gvh/Ercc6tm1Gvh,Xpatm1Gvh/Xpatm1Hvs,Tg(Camk2a-cre)1Szi/0
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CBA

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031446 Cul4a / Q3TCH7 / Cullin-4A / Q13619*  / reaction / complex
 ENSMUSG00000031095 Cul4b / A2A432 / Cullin-4B / Q13620*  / reaction / complex
 ENSMUSG00000024740 Ddb1 / Q3U1J4 / DNA damage-binding protein 1 / Q16531* / damage specific DNA binding protein 1*  / complex / reaction
 ENSMUSG00000022400 Rbx1 / P62878 / E3 ubiquitin-protein ligase RBX1 E3 ubiquitin-protein ligase RBX1, N-terminally processed / P62877* / ring-box 1*  / complex / reaction
 ENSMUSG00000021694 Ercc8 / Q8CFD5 / DNA excision repair protein ERCC-8 / Q13216* / ERCC excision repair 8, CSA ubiquitin ligase complex subunit*  / reaction / complex
 ENSMUSG00000026803 Ttf1 / Q62187 / transcription termination factor, RNA polymerase I / Q15361* / transcription termination factor 1*  / complex
 ENSMUSG00000054051 Ercc6 / ERCC excision repair 6, chromatin remodeling factor / P0DP91* / Q03468* / Q8N328*  / complex
 ENSMUSG00000013787 Ehmt2 / Q9Z148 / Histone-lysine N-methyltransferase EHMT2 / Q96KQ7* / euchromatic histone lysine methyltransferase 2*  / complex






 

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