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Symbol
Name
ID
Clcn1
chloride channel, voltage-sensitive 1
MGI:88417
Phenotype annotations related to muscle
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
EMG abnormality
EMG: myotonic runs
Muscle stiffness
Muscle weakness
Myotonia
Handgrip myotonia
Myotonia with warm-up phenomenon
Percussion myotonia
Skeletal muscle hypertrophy
Disease(s) Associated with CLCN1
myotonia congenita
Thomsen disease

Mouse Phenotypes
muscle phenotype
abnormal skeletal muscle morphology
increased skeletal muscle mass
abnormal muscle physiology
impaired skeletal muscle contractility
abnormal muscle electrophysiology
impaired muscle relaxation
muscle hypertonia
muscle twitch
muscle spasm
Availability Mouse Genotype
Clcn1adr-mto2J/Clcn1adr-mto2J
Clcn1adr-mto7J/Clcn1adr-mto7J
Clcn1adr-mto8J/Clcn1adr-mto8J
Clcn1adr-mto9J/Clcn1adr-mto9J
Clcn1adr-mto/Clcn1adr-mto *
Clcn1adr/Clcn1adr
Clcn1m1Anu/Clcn1m1Anu

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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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory