| Primary Identifier | MGI:1855956 | Allele Type | Chemically induced (ENU) |
| Gene | Clcn1 | Inheritance Mode | Recessive |
| Strain of Origin | C57BL/6 x CBA/CaJ | Is Recombinase | false |
| Is Wild Type | false |
| description | Allelism testing showed this mutation to be allelic to other Clcn1 mutations (J:14986). |
| molecularNote | 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). |
