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Clcn1adr-mto
Spontaneous Allele Detail
Nomenclature
Symbol: Clcn1adr-mto
Name: chloride channel, voltage-sensitive 1; myotonia
MGI ID: MGI:1855953
Synonyms: adrmto
Gene: Clcn1  Location: Chr6:42286685-42315756 bp, + strand  Genetic Position: Chr6, 20.57 cM
Mutation
origin
Strain of Origin:  SWR/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA nonsense mutation at codon 47 (C to T substitution) changes an arginine residue into a stop codon ahead of the first transmembrane region of Clcn1. Northern analyses of adult skeletal muscle using a 5' and a 3' rat cDNA Clcn1 probe detected wild-type size transcript in homozygous mutant mice (J:752). (J:16954)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Clcn1 Mutation:  9 strains or lines available
References
Original:  J:6814 Heller AH, et al., Myotonia, a new inherited muscle disease in mice. J Neurosci. 1982 Jul;2(7):924-33
All:  10 reference(s)

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
04/13/2021
MGI 6.16
The Jackson Laboratory