Symbol Name ID |
Clcn1
chloride channel, voltage-sensitive 1 MGI:88417 |
* | 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 |
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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 |
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 |
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