Clcn1^adr-mto
Spontaneous Allele Detail

Summary

• Symbol: Clcn1^adr-mto
• Name: chloride channel, voltage-sensitive 1; myotonia
• MGI ID: MGI:1855953
• Synonyms: adr^mto
• Gene: Clcn1 Location: Chr6:42263619-42292690 bp, + strand Genetic Position: Chr6, 20.57 cM
• Alliance: Clcn1^adr-mto page

Mutation origin

• Strain of Origin: SWR/J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: A 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

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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: 71 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: 14 reference(s)