Clcn1^adr-K

A 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)