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Clcn1 Gene Detail
Summary
  • Symbol
    Clcn1
  • Name
    chloride channel, voltage-sensitive 1
  • Synonyms
    Clc1, Clc-1, nmf310, nmf355, NMF355, SMCC1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88417
    NCBI Gene: 12723
  • Gene Overview
    MyGene.info: CLCN1
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:42286685-42315756 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 20.57 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    198 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88417
protein coding gene Chr6:42282603-42315759 (.)
129S1/SvImJ MGP_129S1SvImJ_G0030646
protein coding gene Chr6:40794283-40824473 (+)
A/J MGP_AJ_G0030619
protein coding gene Chr6:39016374-39045445 (+)
AKR/J MGP_AKRJ_G0030544
protein coding gene Chr6:40280896-40309967 (+)
BALB/cJ MGP_BALBcJ_G0030629
protein coding gene Chr6:39258443-39287514 (+)
C3H/HeJ MGP_C3HHeJ_G0030342
protein coding gene Chr6:40313407-40342478 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031083
protein coding gene Chr6:41820613-41849684 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028290
protein coding gene Chr6:36898284-36927401 (+)
CAST/EiJ MGP_CASTEiJ_G0029746
protein coding gene Chr6:40147944-40177641 (+)
CBA/J MGP_CBAJ_G0030318
protein coding gene Chr6:43508371-43537442 (+)
DBA/2J MGP_DBA2J_G0030462
protein coding gene Chr6:38866778-38895849 (+)
FVB/NJ MGP_FVBNJ_G0030418
protein coding gene Chr6:38612394-38641582 (+)
LP/J MGP_LPJ_G0030550
protein coding gene Chr6:40760958-40791268 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030452
protein coding gene Chr6:45797700-45826771 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031113
protein coding gene Chr6:40253232-40282301 (+)
PWK/PhJ MGP_PWKPhJ_G0029458
protein coding gene Chr6:38429493-38459355 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029294
protein coding gene Chr6:39815839-39845645 (+)
WSB/EiJ MGP_WSBEiJ_G0029822
protein coding gene Chr6:40244542-40273481 (+)



Homology
more
  • Human Ortholog
    CLCN1, chloride voltage-gated channel 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CLCN1, chloride voltage-gated channel 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CLC1
  • Links
    NCBI Gene ID: 1180
    neXtProt AC: NX_P35523
    UniProt: P35523

  • Chr Location
    7q34; chr7:143316126-143352008 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Clcn1 mouse models; 1 with human CLCN1 associations

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    37 phenotypes from 9 alleles in 9 genetic backgrounds
    1 images
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mutant mice exhibit mild to severe spasms of the hind limbs and abnormal hind limb reflexes.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000029862 Ensembl Gene Model | MGI Sequence Detail 29072 C57BL/6J ±  kb
    transcript ENSMUST00000031894 Ensembl | MGI Sequence Detail 3545 Not Applicable  
    polypeptide ENSMUSP00000031894 Ensembl | MGI Sequence Detail 994 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 2
      cDNA 11
      Primer pair 1
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-1133, MGD-MRK-12592, MGD-MRK-2007, MGD-MRK-2008, MGI:3583309
    References
    more
    • Summaries
      All 101
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 8
      Phenotypes 40
    • Earliest
      J:24998 Bryant SH, et al., Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids. J Physiol. 1971 Dec;219(2):367-83
    • Latest
      J:238652 Carrell ST, et al., Dmpk gene deletion or antisense knockdown does not compromise cardiac or skeletal muscle function in mice. Hum Mol Genet. 2016 Oct 01;25(19):4328-4338

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory