Primary Identifier | MGI:1856831 | Allele Type | Spontaneous |
Gene | Cys1 | Inheritance Mode | Recessive |
Strain of Origin | B6.Cg-Bloc1s6<pa> | Is Recombinase | false |
Is Wild Type | false |
molecularNote | The underlying mutation responsible for the phenotype in the cpk mouse consists of a tandem deletion of 12 bp and 19 bp. The result is a frame-shift within exon 1 that truncates the protein. Northern analysis from kidney and liver revealed the presence of transcript in homozygous mutant animals at reduced levels compared to wild-type. |