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Clcn1adr-K
Chemically induced Allele Detail
Summary
Symbol: Clcn1adr-K
Name: chloride channel, voltage-sensitive 1; myotonia K
MGI ID: MGI:1855956
Synonyms: adrK
Gene: Clcn1  Location: Chr6:42263619-42292690 bp, + strand  Genetic Position: Chr6, 20.57 cM
Alliance: Clcn1adr-K page
Mutation
origin
Strain of Origin:  C57BL/6 x CBA/CaJ
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsA T-to-C transition mutation is predicted to cause an isoleucine to threonine substitution at codon 553. This is a conserved residue within a highly conserved region of the encoded protein. 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
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Clcn1 Mutation:  71 strains or lines available
Notes
Allelism testing showed this mutation to be allelic to other Clcn1 mutations (J:14986).
References
Original:  J:17757 Neumann P, et al., A new allele of adr. Mouse News Lett. 1989;83:157
All:  4 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
05/14/2024
MGI 6.23
The Jackson Laboratory