ENSMUSG00000036636


Mus musculus

Features
Gene ID: ENSMUSG00000036636
  
Biological name :Clcn7
  
Synonyms : Clcn7 / H(+)/Cl(-) exchange transporter 7 / O70496
  
Possible biological names infered from orthology : chloride voltage-gated channel 7 / P51798
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: A3.3
Gene start: 25133391
Gene end: 25162104
  
Corresponding Affymetrix probe sets: 10442691 (MoGene1.0st)   1425821_at (Mouse Genome 430 2.0 Array)   1450408_at (Mouse Genome 430 2.0 Array)   1452702_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000035964
Ensembl peptide - ENSMUSP00000124194
Ensembl peptide - ENSMUSP00000124527
Ensembl peptide - ENSMUSP00000125546
NCBI entrez gene - 26373     See in Manteia.
MGI - MGI:1347048
RefSeq - NM_001317404
RefSeq - NM_011930
RefSeq Peptide - NP_001304333
RefSeq Peptide - NP_036060
swissprot - Q6RUT9
swissprot - E9PYL4
swissprot - F6SUM2
swissprot - F7BK14
swissprot - O70496
Ensembl - ENSMUSG00000036636
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 clcn7ENSDARG00000019556Danio rerio
 CLCN7ENSGALG00000030826Gallus gallus
 CLCN7ENSG00000103249Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Clcn6 / O35454 / Chloride transport protein 6 / P51797* / chloride voltage-gated channel 6*ENSMUSG0000002901642
Clcn3 / P51791 / H(+)/Cl(-) exchange transporter 3 / P51790* / chloride voltage-gated channel 3*ENSMUSG0000000431928
Clcn5 / Q9WVD4 / H(+)/Cl(-) exchange transporter 5 / P51795* / chloride voltage-gated channel 5*ENSMUSG0000000431727
Clcn4 / Q61418 / Mus musculus chloride channel, voltage-sensitive 4 (Clcn4), transcript variant 7, mRNA. / P51793* / chloride voltage-gated channel 4*ENSMUSG0000000060527
Clcn1 / Q64347 / Chloride channel protein 1 / P35523* / chloride voltage-gated channel 1*ENSMUSG0000002986222
Clcn2 / Q9R0A1 / Chloride channel protein 2 / P51788* / chloride voltage-gated channel 2*ENSMUSG0000002284322
Clcnka / Q9WUB7 / Chloride channel protein ClC-Ka / CLCNKB* / P51800* / P51801* / chloride voltage-gated channel Kb* / chloride voltage-gated channel Ka*ENSMUSG0000003377020
Q9WUB6 / Clcnkb / Chloride channel protein ClC-Kb / CLCNKA* / P51800* / P51801* / chloride voltage-gated channel Ka* / chloride voltage-gated channel Kb*ENSMUSG0000000621619


Protein motifs (from Interpro)
Interpro ID Name
 IPR000644  CBS domain
 IPR001807  Chloride channel, voltage gated
 IPR002249  Chloride channel ClC-7
 IPR014743  Chloride channel, core


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0009268 response to pH IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0005247 voltage-gated chloride channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0015297 antiporter activity IEA


Pathways (from Reactome)
Pathway description
Stimuli-sensing channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000062 increased bone density "increased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129 * 129S/SvEv * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2J

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129S/SvEv * BALB/cJ * C57BL/6

 MP:0000065 abnormal bone marrow cavities "absence or abnormal size or shape of the medullary cavities of the bones" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000067 osteopetrosis "excessive formation of dense trabecular bone and excessive calcified cartilage formation; may lead to anemia and extramedullary hematopoiesis " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * CD-1

 MP:0000119 abnormal tooth eruption "anomalies in the passage of a tooth through the alveolar process and perforation of the gums" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0000121 failure of tooth eruption "inability of the teeth to grow into the oral cavity" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:61295]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * CD-1

 MP:0000130 abnormal cancellous bone morphology "structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Il17rbtm1Lex/Il17rbtm1Lex
Genetic Background: C.129-Il17rbtm1Lex

Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129 * 129S/SvEv * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2J

 MP:0000432 abnormal head morphology "anomalous structure or development of the portion of the body containing the brain and organs of sight, hearing, taste, and smell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0000547 short limbs "reduced average length of the extremities" [MGI:CLS, J:61509]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * 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]
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Allelic Composition: Arhgap33tm1.1Wbm/Arhgap33tm1.1Wbm,Cdc42tm1Brak/Cdc42+,Neurod6tm1(cre)Kan/Neurod6+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0000790 abnormal stratification in cerebral cortex "abnormal formation or pattern of the layers of the cerebral cortex " [J:64289, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0000807 abnormal hippocampus morphology "absent or malformed deep lying structure of the cerebrum involved with memory storage and spatial navigation" [The Atlas of Mouse Development:ISBN 0-12-402035-6, MGI:Cls, J:38857]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

 MP:0000811 hippocampal neuron degeneration "a retrogressive impairment of function or destruction of the neuronal cells in the hippocampus" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator, J:72427]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm4.1Tjj/Clcn7+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0000812 abnormal dentate gyrus morphology "absence or malformation of one of two interlocking gyri of the hippocampus that contains granule cells, which project to the pyramidal cells and interneurons of the CA3 region of the ammon gyrus" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:38857]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

 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: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Mocs2tm1(KOMP)Vlcg/Mocs2+
Genetic Background: involves: C57BL/6NTac

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: C.129(Cg)-Clcn7tm2.1Mjec

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Il17rbtm1Lex/Il17rbtm1Lex
Genetic Background: C.129-Il17rbtm1Lex

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: 129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: D2.129(Cg)-Clcn7tm2.1Mjec

 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: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * CD-1

 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: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm4.1Tjj/Clcn7+
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
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Allelic Composition: Arhgap33tm1.1Wbm/Arhgap33tm1.1Wbm,Cdc42tm1Brak/Cdc42+,Neurod6tm1(cre)Kan/Neurod6+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Sco2tm1.1Easc/Sco2tm2.1Easc
Genetic Background: 129X1/SvJ-Sco2tm1.1Easc/Sco2tm2.1Easc

 MP:0001541 abnormal osteoclast function "reduced ability or inability of osteoclasts to absorb and remove osseous tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:58795]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 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: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0001953 respiratory failure "cessation of or failure to commence breathing" [MGI:cls, J:60159]
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Allelic Composition: Arhgap33tm1.1Wbm/Arhgap33tm1.1Wbm,Cdc42tm1Brak/Cdc42+,Neurod6tm1(cre)Kan/Neurod6+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 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: Il17rbtm1Lex/Il17rbtm1Lex
Genetic Background: C.129-Il17rbtm1Lex

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * CD-1

 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: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002397 abnormal bone marrow morphology "structural anomalies in the soft tissue that fills the cavities of bones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002826 tonic seizures "increased number or decreased threshold for the induction of a seizure characterized by muscle rigidity" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 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: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0002904 increased circulating parathyroid hormone level "greater than expected blood concentration of this regulator of calcium and phosphorous concentration" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0002968 increased circulating alkaline phosphatase level "elevated activity of this enzyme, which hydrolyzes orthophosphoric monoesters, found in the blood" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2J

 MP:0003172 abnormal lysosome physiology "ability of lysosomes to produce enzymes necessary for digestion of exogenous material is impaired" [llw2:Linda Washburn , Mouse Genome Informatics Curator]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Tg(APOE-cre)VITew/0
Genetic Background: B6.Cg-Clcn7tm3.1Tjj Tg(APOE-cre)VITew

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0003240 loss of hippocampal neurons "loss of neurons in the hippocampal region of the brain, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

 MP:0003241 loss of cortex neurons "loss of neurons in the cortex region of the brain, commonly due to an apoptotic event" [RGD:Rat Genome Database submission]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * 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]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0004982 abnormal osteoclast morphology "any structural anomaly of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0004984 increased osteoclast cell number "greater than average number of the bone resorpting cells that remove bone tissue by degrading the mineralized matrix" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0004988 increased osteoblast cell number "greater than average number of the bone-forming cells, which normally form an osseous matrix (osteoid) in which they become enclosed as an osteocytes" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0004993 decreased bone resorption "reduced amount of degradation of the organic and inorganic phases of bone by absorption, usually by the abnormal function or number of osteoclasts" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0005059 lysosomal protein accumulation "buildup of protein in the lysosome" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0005060 accumulation of giant lysosomes in kidney/renal tubule cells "buildup of contents in lysosomes in cells of the kidney tubules " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:5590]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Clcn5tm1Tjj/Clcn5+,Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Tg(APOE-cre)VITew/0
Genetic Background: involves: 129/Sv * 129S1/Sv * 129X1/SvJ * C57BL/6 * C57BL/6J

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0005352 small skull "less than the normal size of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

 MP:0005605 increased bone mass "an increase in the total amount of bone tissue contained in the skeleton" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0006219 optic nerve degeneration "retrogressive pathologic change of the optic nerve" [ncbi:Matthew Mailman, NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008260 abnormal autophagy "abnormal catabolic process involving the degradation of a cell s own components through the lysosomal machinery" [MGI:honda "Hiraoki Onda, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008271 abnormal bone ossification "any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008511 thin retinal inner nuclear layer "reduced thickness of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0008535 enlarged lateral ventricles "increased size of the cavity in each of the cerebral hemispheres derived from the cavity of the embryonic neural tube; they are separated from each other by the septum pellucidum, and each communicates with the third ventricle by the foramen of Monro, through which also the choroid plexuses of the lateral ventricles become continuous with that of the third ventricle" [MESH:A08.186.211.276.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

 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: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0008583 absent photoreceptor inner segment "absence of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0008585 absent photoreceptor outer segment "absence of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 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: Clcn7tm3.1Tjj/Clcn7tm3.1Tjj,Emx1tm1.1(cre)Ito/Emx1+
Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0009347 increased cancellous bone thickness "thicker than normal bone with a lattice-like or spongy structure" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm4.1Tjj/Clcn7tm4.1Tjj
Genetic Background: involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: 129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: C.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: D2.129(Cg)-Clcn7tm2.1Mjec

 MP:0010013 cerebral cortex pyramidal cell degeneration "a retrogressive impairment or destruction of the projection neuron in the pyramidal layer of the cerebral cortex" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Lex/Clcn7tm1.1Lex
Genetic Background: involves: 129S5/SvEvBrd * C57BL/6J

 MP:0010123 increased bone mineral content "elevation in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mocs2tm1(KOMP)Vlcg/Mocs2+
Genetic Background: involves: C57BL/6NTac

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: 129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: C.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: D2.129(Cg)-Clcn7tm2.1Mjec

 MP:0010868 increased bone trabecula number "increased number of intersecting plates and spicules in cancellous bone which form a meshwork of intercommunicating spaces filled with blood vessels and marrow; in mature bone, the trabeculae are aligned in parallel with the lines of major compressive or tensile force" [http://www.dorlands.com/ "Dorland s Illustrated Medical Dictionary, 31st edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129 * 129S/SvEv * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2J

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: B6.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: 129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: C.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: D2.129(Cg)-Clcn7tm2.1Mjec

 MP:0010878 increased trabecular bone volume "increase in the amount of space occupied by trabecular bone tissue in the skeleton" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Clcn7tm1.1Teti/Clcn7+
Genetic Background: involves: 129S2/SvPas * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129 * 129S/SvEv * C57BL/6

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2J

Allelic Composition: Clcn7tm1.1Mjec/Clcn7+
Genetic Background: involves: 129S/SvEv * BALB/cJ * C57BL/6

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: B6.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: 129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: C.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: D2.129(Cg)-Clcn7tm2.1Mjec

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Foxn1tm1Nrm/Foxn1tm1Nrm
Genetic Background: involves: 129X1/SvJ * C57BL/6J

Allelic Composition: Clcn7tm2Tjj/Clcn7tm2Tjj
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0011747 myelofibrosis "appearance of fibrous connective tissue in the bone marrow, often resulting from inflammation or injury; especially replacement of the marrow with collagenous connective tissue fibers, frequently accompanied by splenomegaly and anemia or cytopenias" [ISBN:0-683-40008-8]
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Allelic Composition: Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic Background: involves: 129S2/SvPas * C57BL/6

 MP:0013617 increased areal bone mineral density "increase in the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/cm^2), with results generated from Dual-energy X-ray absorptiometry (DXA or DEXA) tests" [PMID:12730800, PMID:17481978]
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Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: B6.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: 129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: C.129(Cg)-Clcn7tm2.1Mjec

Allelic Composition: Clcn7tm2.1Mjec/Clcn7tm2.1Mjec
Genetic Background: D2.129(Cg)-Clcn7tm2.1Mjec

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000038280 Ostm1 / Q8BGT0 / Osteopetrosis-associated transmembrane protein 1 / Q86WC4*  / complex






 

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