A new spontaneous mouse mutation in the Kcne1 gene

A new mouse mutant, punk rocker (allele symbol Kcnel(pkr)), arose spontaneo usly on a C57BL/10J inbred strain background and is characterized by a dist inctive head-tossing, circling, and ataxic phenotype. It is also profoundly and bilaterally deaf. The mutation resides in the Kcne1 gene on Chromosome (Chr) 16 and has been identified as a single base change within the coding region of the third exon. The C to T nucleotide substitution causes an arg inine to be altered to a termination codon at amino acid position 67, and p redictably this will result in a significantly truncated protein product. T he Kcne1(pkr) mutant represents the first spontaneous mouse model for the h uman disorder, Jervell and Lange-Nielsen syndrome, associated with mutation s in the homologous KCNE1 gene on human Chr 21.