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

Muscle hypertrophy of the lower extremities

EMG abnormality

EMG: myopathic abnormalities

EMG: myotonic discharges

EMG: myotonic runs

Muscle spasm

Muscle stiffness

Muscle weakness

Progressive distal muscle weakness

Myotonia

Handgrip myotonia

Myotonia with warm-up phenomenon

Percussion myotonia

Skeletal muscle hypertrophy

Myopathy

Disease(s) Associated with CLCN1

Becker disease

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	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
	Clcn1^adr-mto2J/Clcn1^adr-mto2J
	Clcn1^adr-mto7J/Clcn1^adr-mto7J
	Clcn1^adr-mto8J/Clcn1^adr-mto8J
	Clcn1^adr-mto9J/Clcn1^adr-mto9J
	Clcn1^adr-mto/Clcn1^adr-mto	*
	Clcn1^adr/Clcn1^adr
	Clcn1^m1Anu/Clcn1^m1Anu

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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