Abstract.
A new mouse mutant, punk rocker (allele symbol Kcne1 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.
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Received: 20 April 2000 / Accepted: 2 June 2000
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Letts, V., Valenzuela, A., Dunbar, C. et al. A new spontaneous mouse mutation in the Kcne1 gene. Incorporating Mouse Genome 11, 831–835 (2000). https://doi.org/10.1007/s003350010178
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DOI: https://doi.org/10.1007/s003350010178