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• W2022207857 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." @default.
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• W2022207857 date "2000-10-01" @default.
• W2022207857 modified "2023-10-03" @default.
• W2022207857 title "A new spontaneous mouse mutation in the Kcne1 gene" @default.
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• W2022207857 doi "https://doi.org/10.1007/s003350010178" @default.
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