A new spontaneous mouse mutation in the Kcne1 gene

Mamm Genome. 2000 Oct;11(10):831-5. doi: 10.1007/s003350010178.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Chromosome Mapping
  • Ear / physiology
  • Hearing / genetics
  • Mice
  • Mice, Inbred C57BL
  • Mice, Inbred CBA
  • Mice, Inbred DBA
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Potassium Channels / genetics*
  • Potassium Channels, Voltage-Gated*

Substances

  • Potassium Channels
  • Potassium Channels, Voltage-Gated
  • potassium channel protein I(sk)