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Clcn1 Gene Detail
Summary
  • Symbol
    Clcn1
  • Name
    chloride channel, voltage-sensitive 1
  • Synonyms
    Clc-1, Clc1, nmf310, nmf355, NMF355, SMCC1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88417
    NCBI Gene: 12723
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:42263619-42292690 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 20.57 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    716 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    6
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88417
 protein coding gene Chr6:42263552-42292693 (+)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CLCN1, chloride voltage-gated channel 1
  • Synonyms
    CLC1
  • Links
    NCBI Gene ID: 1180
    neXtProt AC: NX_P35523
    UniProt: P35523

  • Chr Location
    7q34; chr7:143316111-143352083 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Clcn1 mouse models; 3 with human CLCN1 associations

Human Disease Mouse Models
      
IDs
 View 4 models
      
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    63 phenotypes from 12 alleles in 12 genetic backgrounds
    1 images
    50 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutant mice exhibit mild to severe spasms of the hind limbs and abnormal hind limb reflexes. Mice homozygous for an ENU-induced allele exhibit spine deformities and reduced body size.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    20
  • GO References
    10
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    816
  • Tissues
    59
  • cDNA Data
    10
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 20
      Genomic 2
      cDNA 12
      Primer pair 5
      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 115
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 10
      Phenotypes 50
    • 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:351877 Wang X, et al., Plateau potentials contribute to myotonia in mouse models of myotonia congenita. Exp Neurol. 2022 Dec 20;361:114303
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory