A new spontaneous mouse mutation in the Kcne1 gene

作者：Letts VA^*; Valenzuela A; Dunbar C; Zheng QY; Johnson KR; Frankel WN

来源：Mammalian Genome, 2000, 11(10): 831-835.

DOI：10.1007/s003350010178

A new mouse mutant, punk rocker (allele symbol Kcnel(pkr)), arose spontaneously on a C57BL/10J inbred strain background and is characterized by a distinctive 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 arginine to be altered to a termination codon at amino acid position 67, and predictably this will result in a significantly truncated protein product. The Kcne1(pkr) mutant represents the first spontaneous mouse model for the human disorder, Jervell and Lange-Nielsen syndrome, associated with mutations in the homologous KCNE1 gene on human Chr 21.

• 出版日期2000-10