Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Clcn1adr-mto
Name:	chloride channel, voltage-sensitive 1; myotonia
MGI ID:	MGI:1855953
Synonyms:	adrmto
Gene:	Clcn1  Location: Chr6:42263619-42292690 bp, + strand  Genetic Position: Chr6, 20.57 cM
Alliance:	Clcn1adr-mto page

Strain of Origin:

SWR/J

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

Original:	J:6814 Heller AH, et al., Myotonia, a new inherited muscle disease in mice. J Neurosci. 1982 Jul;2(7):924-33
All:	12 reference(s)