ENSMUSG00000026849


Mus musculus

Features
Gene ID: ENSMUSG00000026849
  
Biological name :Tor1a
  
Synonyms : Q9ER39 / Tor1a / torsin family 1, member A (torsin A)
  
Possible biological names infered from orthology : O14656 / torsin family 1 member A
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: B
Gene start: 30960627
Gene end: 30967933
  
Corresponding Affymetrix probe sets: 10481525 (MoGene1.0st)   1426515_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000028200
NCBI entrez gene - 30931     See in Manteia.
MGI - MGI:1353568
RefSeq - NM_144884
RefSeq Peptide - NP_659133
swissprot - Q3TV62
swissprot - Q9ER39
Ensembl - ENSMUSG00000026849
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 tor1ENSDARG00000077950Danio rerio
 tor1l1ENSDARG00000055856Danio rerio
 tor1l2ENSDARG00000090741Danio rerio
 tor1l3ENSDARG00000026895Danio rerio
 TOR1AENSGALG00000004165Gallus gallus
 TOR1AENSG00000136827Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Tor1b / Q9ER41 / Torsin-1B / O14657* / torsin family 1 member B*ENSMUSG0000002684864
Tor2a / Q8R1J9 / Torsin-2A / Q8N2E6* / Q5JU69* / torsin family 2 member A*ENSMUSG0000000956341
Tor3a / Q9ER38 / Torsin-3A / Q9H497* / torsin family 3 member A*ENSMUSG0000006051938
Tor4a / Q8BH02 / Torsin-4A / Q9NXH8* / torsin family 4 member A*ENSMUSG0000005955522


Protein motifs (from Interpro)
Interpro ID Name
 IPR010448  Torsin
 IPR017378  Torsin 1/2
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR030549  Torsin-1A


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000338 protein deneddylation IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0006996 organelle organization IMP
 biological_processGO:0006998 nuclear envelope organization IMP
 biological_processGO:0007155 cell adhesion ISO
 biological_processGO:0031175 neuron projection development ISO
 biological_processGO:0034504 protein localization to nucleus IEA
 biological_processGO:0044319 wound healing, spreading of cells IMP
 biological_processGO:0045104 intermediate filament cytoskeleton organization ISS
 biological_processGO:0048489 synaptic vesicle transport ISS
 biological_processGO:0051085 chaperone cofactor-dependent protein refolding IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0051584 regulation of dopamine uptake involved in synaptic transmission IEA
 biological_processGO:0061077 chaperone-mediated protein folding ISS
 biological_processGO:0071712 ER-associated misfolded protein catabolic process IDA
 biological_processGO:0071763 nuclear membrane organization IMP
 biological_processGO:0072321 chaperone-mediated protein transport ISO
 biological_processGO:1900244 positive regulation of synaptic vesicle endocytosis ISO
 biological_processGO:2000008 regulation of protein localization to cell surface IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005635 nuclear envelope IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum ISO
 cellular_componentGO:0005788 endoplasmic reticulum lumen ISO
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0008021 synaptic vesicle ISS
 cellular_componentGO:0016020 membrane ISO
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030133 transport vesicle IEA
 cellular_componentGO:0030141 secretory granule IEA
 cellular_componentGO:0030426 growth cone ISS
 cellular_componentGO:0030659 cytoplasmic vesicle membrane ISS
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031965 nuclear membrane IEA
 cellular_componentGO:0042406 extrinsic component of endoplasmic reticulum membrane ISS
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0008092 cytoskeletal protein binding IPI
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016887 ATPase activity IEA
 molecular_functionGO:0019894 kinesin binding IEA
 molecular_functionGO:0051082 unfolded protein binding IEA
 molecular_functionGO:0051787 misfolded protein binding IPI


Pathways (from Reactome)
Pathway description
Cargo recognition for clathrin-mediated endocytosis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv * C57BL/6J

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0000746 weakness "state of being infirm or less strong than littermates" [J:45400]
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Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0000778 abnormal tract 
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Allelic Composition: Ntrk2tm2Lfp/Ntrk2tm2Lfp,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0000864 abnormal vermis "malformation in the narrow middle zone between the two hemispheres of the cerebellum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61509]
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Allelic Composition: Ntrk2tm2Lfp/Ntrk2tm2Lfp,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0000885 ectopic Purkinje cell "Purkinje cell body resides in places other than the Purkinje cell layer in the cerebellum" [MGI:tc, J:60896]
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Allelic Composition: Ntrk2tm2Lfp/Ntrk2tm2Lfp,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0000955 abnormal spinal cord morphology "malformation or disorganization of the cylindrical tissue of the vertebral canal that extends from the medulla oblongata to the conus medullaris" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gabra5tm1Twr/Gabra5tm1Twr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001071 abnormal facial nerve morphology "malformed or misprojection of motor axons from the pons to the face" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:29973]
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Allelic Composition: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
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]
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Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

 MP:0001290 delayed eyelid opening "late average time for the first postnatal eye opening" [J:17792]
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Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 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: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Emx1tm1(cre)Yql/Emx1+,Tor1atm2Yql/Tor1atm2Yql
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

Allelic Composition: Emx1tm1(cre)Yql/Emx1+,Tor1atm2Yql/Tor1atm2Yql
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * 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: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

Allelic Composition: Emx1tm1(cre)Yql/Emx1+,Tor1atm2Yql/Tor1atm2Yql
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv * DBA/2J

 MP:0001409 increased stereotypic behavior "more frequent incidence of repetitive, invariant, perseverative motor patterns that do not appear to be purposeful" [What s Wrong With My Mouse?:ISBN 0-471-31639-3, MGI:CLS, J:57125]
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Allelic Composition: Emx1tm1(cre)Yql/Emx1+,Tor1atm2Yql/Tor1atm2Yql
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

 MP:0001431 abnormal eating behavior "inability to consume or atypical consumption pattern" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:19212]
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Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001436 abnormal suckling behavior "reduced ability or inability to exert suction by the mouth, or atypical suckling pattern" [J:16461]
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Allelic Composition: Gabra5tm1Twr/Gabra5tm1Twr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
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Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 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: Tg(Nes-cre)1Kln/0,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hprttm2(Pgk1-Pac/TK)Brd/Hprt+,H2afvTg(Wnt1-cre)11Rth/0
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * CBA

 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: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0001961 abnormal reflex "anomalies in an involuntary response to a peripheral stimulus" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * 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]
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Allelic Composition: Zbtb20tm1Stoy/Zbtb20tm1Stoy
Genetic Background: involves: 129S2/SvPas

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0002183 gliosis "increased growth pattern of neuroglia in a damaged area of the brain or spinal cord" [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: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [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: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Emx1tm1(cre)Krj/Emx1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129S6/SvEvTac * C57BL/6J

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0003111 abnormal nucleus morphology "abnormalities in the nucleus and/or its surrounding membrane" [J:91473, smb:Susan M. Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Gabra5tm1Twr/Gabra5tm1Twr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Tor1atm1Wtd/Tor1a+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv

Allelic Composition: Tor1atm2Wtd/Tor1a+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Tor1atm1Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv

Allelic Composition: Tor1atm1Wtd/Tor1a+,Tor1aip1Gt(GST004691)Lex/Tor1aip1+
Genetic Background: involves: 129S1/Sv

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: D2.129S1-Tor1atm2Wtd

Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0003492 abnormal involuntary movement "anomalies in movements that occur independent of planning (eg. reflexive behavior)" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0003894 abnormal Purkinje cell innervation "malformation or absence of the supply of nerve fibers that connect to the Purkinje cells" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Trp53tm3Tyj/Trp53+,Tg(Wap-cre)11738Mam/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 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: Ntrk2tm2Lfp/Ntrk2tm2Lfp,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0004811 abnormal neuron physiology "anomalous function of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv

Allelic Composition: Tor1atm2Wtd/Tor1a+
Genetic Background: involves: 129S1/Sv

 MP:0004996 abnormal CNS synapse formation "any anomaly in the process of generating the initial connections between an axon and effector tissue or neuron" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Trp53tm3Tyj/Trp53+,Tg(Wap-cre)11738Mam/0
Genetic Background: involves: 129S4/SvJae * C57BL/6 * SJL

 MP:0005287 narrow eye opening "less than the normal distance from one eyelid to the other " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:71350]
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Allelic Composition: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 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: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0005643 decreased dopamine level "less than the normal concentration of this catecholamine neurotransmitter, dervied from tyrosine and the precursor to norepinephrine and epinephrine" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, J:88298]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 MP:0008026 abnormal brain white matter morphology "any structural anomaly of the regions of the brain that are largely or entirely composed of myelinated nerve cell axons and contain few or no neural cell bodies or dendrites" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ntrk2tm2Lfp/Ntrk2tm2Lfp,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 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: Ntrk2tm2Lfp/Ntrk2tm2Lfp,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0008914 enlarged cerebellum "increased size of the cerebellum" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Ntrk2tm2Lfp/Ntrk2tm2Lfp,Tg(Col2a1-cre)1Bhr/0
Genetic Background: involves: 129 * C57BL/6 * SJL

 MP:0008948 decreased neuron number "fewer than normal numbers of the cells of the nervous system that receive, conduct, and transmit impulses" [MESH:A08.663]
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Allelic Composition: Atg16l1tm2.1Mvlc/Atg16l1tm2.1Mvlc,Lyz2tm1(cre)Ifo/Lyz2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0009546 absent gastric milk in neonates "failure of nursing offspring to ingest milk as indicated by stomach content" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Emx1tm1(cre)Yql/Emx1+,Tor1atm2Yql/Tor1atm2Yql
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

 MP:0009979 abnormal cerebellum deep nucleus morphology "any structural anomaly of the gray matter nuclei located in the center of the cerebellum, embedded in the white matter, which receive inhibitory (GABAergic) inputs from Purkinje cells in the cerebellar cortex and excitatory (glutamatergic) inputs from mossy fiber pathways; all output fibers of the cerebellum originate from the these nuclei" [http://www.spiritus-temporis.com/cerebellum/anatomy.html]
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Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0011085 complete postnatal lethality "premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Emx1tm1(cre)Yql/Emx1+,Tor1atm2Yql/Tor1atm2Yql
Genetic Background: involves: 129S2/SvPas * 129S4/SvJae * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv * DBA/2J

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: D2.129S1-Tor1atm2Wtd

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv * CD-1

Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
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Allelic Composition: Gabra5tm1Twr/Gabra5tm1Twr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0011089 complete perinatal lethality "death of all organisms of a given genotype in a population within the perinatal period (Mus: E18.5 through postnatal day 1)" [MGI:csmith]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

 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: Tor1atm4.2Wtd/Tor1atm4.2Wtd
Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6

 MP:0012267 abnormal red nucleus morphology "any anomaly of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination" [MGI:anna]
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Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm1Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C57BL/6J

Allelic Composition: En1tm2(cre)Wrst/En1+,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0012268 absent red nucleus "absence of the pale pink structure located in the tegmentum of the midbrain next to the substantia nigra and involved in motor coordination" [MGI:anna]
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Allelic Composition: Tg(Nes-cre)1Kln/0,Tor1atm2Wtd/Tor1atm3.1Wtd
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * C57BL/6J * SJL

 MP:0020351 decreased vocalization "decrease in the production of vocal sound" [ORCID: orcid.org/0000-0003-4606-0597, PMID:26621702]
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Allelic Composition: Gabra5tm1Twr/Gabra5tm1Twr
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Tor1atm2Wtd/Tor1atm2Wtd
Genetic Background: involves: 129S1/Sv

 MP:0020560 abnormal pontine nuclei morphology "any structural anomaly of nuclei in the basal pons, intermingled among the descending axons from the cortex, that receive neocortcial input and give rise to many axons that cross the midline to enter the contralateral cerebellum" [UBERON:0002151]
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Allelic Composition: Faslpr/Faslpr
Genetic Background: MRL/Mp-Faslpr atms

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026849 Tor1a / Q9ER39 / torsin family 1, member A (torsin A) / O14656* / torsin family 1 member A*  / complex
 ENSMUSG00000020961 Ston2 / Q8BZ60 / Stonin-2 / Q8WXE9*  / complex / reaction






 

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