Primary Identifier | MGI:1855953 | Allele Type | Spontaneous |
Gene | Clcn1 | Inheritance Mode | Recessive |
Strain of Origin | SWR/J | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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). |