ENSMUSG00000029862


Mus musculus

Features
Gene ID: ENSMUSG00000029862
  
Biological name :Clcn1
  
Synonyms : Chloride channel protein 1 / Clcn1 / Q64347
  
Possible biological names infered from orthology : chloride voltage-gated channel 1 / P35523
  
Species: Mus musculus
  
Chr. number: 6
Strand: 1
Band: B2.1
Gene start: 42286685
Gene end: 42315756
  
Corresponding Affymetrix probe sets: 10537742 (MoGene1.0st)   1427591_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000132387
Ensembl peptide - ENSMUSP00000131354
Ensembl peptide - ENSMUSP00000132154
Ensembl peptide - ENSMUSP00000031894
Ensembl peptide - ENSMUSP00000126045
Ensembl peptide - ENSMUSP00000130148
Ensembl peptide - ENSMUSP00000130550
Ensembl peptide - ENSMUSP00000130968
NCBI entrez gene - 12723     See in Manteia.
MGI - MGI:88417
RefSeq - XM_011241199
RefSeq - NM_013491
RefSeq - XM_006505476
RefSeq - XM_006505477
RefSeq Peptide - NP_038519
swissprot - F7C9S1
swissprot - F6QI82
swissprot - E9Q2N3
swissprot - Q64347
swissprot - F6QL23
swissprot - F6VSA8
swissprot - F7A9J6
swissprot - F6X177
Ensembl - ENSMUSG00000029862
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 clcn1aENSDARG00000062084Danio rerio
 clcn1bENSDARG00000012269Danio rerio
 CLCN1ENSGALG00000014695Gallus gallus
 CLCN1ENSG00000188037Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Clcn2 / Q9R0A1 / Chloride channel protein 2 / P51788* / chloride voltage-gated channel 2*ENSMUSG0000002284347
Q9WUB6 / Clcnkb / Chloride channel protein ClC-Kb / CLCNKA* / P51800* / P51801* / chloride voltage-gated channel Ka* / chloride voltage-gated channel Kb*ENSMUSG0000000621628
Clcnka / Q9WUB7 / Chloride channel protein ClC-Ka / CLCNKB* / P51800* / P51801* / chloride voltage-gated channel Kb* / chloride voltage-gated channel Ka*ENSMUSG0000003377028
Clcn3 / P51791 / H(+)/Cl(-) exchange transporter 3 / P51790* / chloride voltage-gated channel 3*ENSMUSG0000000431919
Clcn7 / O70496 / H(+)/Cl(-) exchange transporter 7 / P51798* / chloride voltage-gated channel 7*ENSMUSG0000003663618
Clcn5 / Q9WVD4 / H(+)/Cl(-) exchange transporter 5 / P51795* / chloride voltage-gated channel 5*ENSMUSG0000000431718
Clcn4 / Q61418 / Mus musculus chloride channel, voltage-sensitive 4 (Clcn4), transcript variant 7, mRNA. / P51793* / chloride voltage-gated channel 4*ENSMUSG0000000060517
Clcn6 / O35454 / Chloride transport protein 6 / P51797* / chloride voltage-gated channel 6*ENSMUSG0000002901617


Protein motifs (from Interpro)
Interpro ID Name
 IPR000644  CBS domain
 IPR001807  Chloride channel, voltage gated
 IPR002243  Chloride channel ClC-1
 IPR014743  Chloride channel, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0006936 muscle contraction IEA
 biological_processGO:0019227 neuronal action potential propagation IMP
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0034707 chloride channel complex IEA
 cellular_componentGO:0042383 sarcolemma IDA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005247 voltage-gated chloride channel activity IEA
 molecular_functionGO:0005254 chloride channel activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

 MP:0000416 sparse fur "fur that is significantly less dense" [J:46854]
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Allelic Composition: Clcn1adr-mto9J/Clcn1adr-mto9J
Genetic Background: C57BL/6J-Clcn1adr-mto9J/J

 MP:0000743 muscle spasms "muscular twitching, cramps and seizures ; frequently associated with calcium deficiency, hypoparathyroidism, vitamin D deficiency or alkalosis " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Bmpr1btm1Kml/Bmpr1btm1Kml
Genetic Background: involves: 129S/SvEv * C57BL/6J

Allelic Composition: Clcn1adr-mto8J/Clcn1adr-mto8J
Genetic Background: B6;C3Fe-Clcn1adr-mto8J/CxJ

 MP:0000755 hindlimb paralysis "loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnga2tm1Reed/Y
Genetic Background: involves: 129/Sv * BALB/cJ

Allelic Composition: Clcn1adr-mto9J/Clcn1adr-mto9J
Genetic Background: C57BL/6J-Clcn1adr-mto9J/J

 MP:0000756 forelimb paralysis "loss of power of voluntary movement in muscles of the forlimb through injury or disease of it or its nerve supply" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Cnga2tm1Reed/Y
Genetic Background: involves: 129/Sv * BALB/cJ

 MP:0000759 abnormal skeletal muscle morphology "anomalous structure of any of the striated muscle fibers connected at either or both extremeties with the bony framework of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Adamts13tm1Myta/Adamts13tm1Myta
Genetic Background: involves: 129S6/SvEvTac

 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: Atoh7tm2Gan/Atoh7tm2Gan
Genetic Background: involves: 129S/SvEv * C57BL/6J

Allelic Composition: Clcn1adr-mto9J/Clcn1adr-mto9J
Genetic Background: C57BL/6J-Clcn1adr-mto9J/J

 MP:0001388 abnormal stationary movement "altered ability or inability to change body posture or shift a body part" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Aco1tm1.2Mwh/Aco1tm1.2Mwh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Gt(ROSA)26Sortm1(CAG-EGFP/Vamp2)Ggc/Gt(ROSA)26Sor+,Tg(Syn1-cre)671Jxm/0
Genetic Background: involves: C57BL/6 * CBA

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Clcn1adr-mto8J/Clcn1adr-mto8J
Genetic Background: B6;C3Fe-Clcn1adr-mto8J/CxJ

Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

Allelic Composition: Clcn1m1Anu/Clcn1m1Anu
Genetic Background: involves: C57BL/6 * CBA/H

 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: Bmpr1btm1Kml/Bmpr1btm1Kml
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0001523 impaired righting response "reduced ability or greater amount of time needed to recover from supine position" [J:25565]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0001524 impaired limb coordination "reduced ability to organize limb movements to execute complex maneuvers, such as walking" [J:64962, MGI:CLS, J:17123]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

 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: Clcn1adr-mto8J/Clcn1adr-mto8J
Genetic Background: B6;C3Fe-Clcn1adr-mto8J/CxJ

Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0001921 reduced fertility "diminished ability to produce live offspring" [J:65030]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

 MP:0001923 reduced female fertility "reduced ability of female to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0001924 infertility "inability to produce live offspring" [J:47225]
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Allelic Composition: Cnga2tm1Reed/Y
Genetic Background: involves: 129/Sv * BALB/cJ

 MP:0001925 male infertility "inability of male to produce live offspring" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409]
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Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0002067 abnormal sensory capabilities/reflexes/nociception "inability or altered ability to respond to a sensory stimulus" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-EGFP/Vamp2)Ggc/Gt(ROSA)26Sor+,Tg(Syn1-cre)671Jxm/0
Genetic Background: involves: C57BL/6 * CBA

 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: Runx1tm2.1(Runx1/Mecom)Homy/Runx1+
Genetic Background: B6.129P2-Runx1tm2.1(Runx1/Mecom)Homy

 MP:0002106 abnormal muscle physiology "anomolous function of the muscle, not due to an anatomical defect" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Adamts13tm1Myta/Adamts13tm1Myta
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0002841 impaired skeletal muscle contractility "inability or reduced ability of the skeletal muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0002862 altered righting response "altered ability or changed amount of time needed to recover from supine position" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

 MP:0003157 impaired muscle relaxation "reduced or absent ability of muscle to lengthen following contractions" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92510]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

Allelic Composition: Clcn1adr-mto2J/Clcn1adr-mto2J
Genetic Background: BALB/cByJ-Clcn1adr-mto2J

Allelic Composition: Clcn1adr-mto9J/Clcn1adr-mto9J
Genetic Background: C57BL/6J-Clcn1adr-mto9J/J

Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0003491 abnormal voluntary movement "anomalies in coordinated movements executed with a purpose and can be improved by learning and/or experience" [Nmice:Neuromice Consortium Submission]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

 MP:0004143 hypertonia "increased muscle tone" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn1m1Anu/Clcn1m1Anu
Genetic Background: involves: C57BL/6 * CBA/H

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 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: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0004818 increased skeletal muscle mass "increase in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

 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: Clcn1adr-mto/Clcn1adr-mto
Genetic Background: SWR/J

 MP:0008874 decreased sensitivity to xenobiotics "increase in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn1adr-mto2J/Clcn1adr-mto2J
Genetic Background: BALB/cByJ-Clcn1adr-mto2J

 MP:0009046 muscle twitch "minor, sometimes imperceptible, local muscle contractions or uncontrollable movement of a single muscle group served by a single motor nerve fiber or filament sometime, but not always, indicating a neurological disorder" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn1adr/Clcn1adr
Genetic Background: A2G-Clcn1adr

 MP:0009434 paraparesis "a weakness affecting lower limbs" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Aco1tm1.2Mwh/Aco1tm1.2Mwh
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

Allelic Composition: Clcn1m1Anu/Clcn1m1Anu
Genetic Background: involves: C57BL/6 * CBA/H

  


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






 

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