title: A new spontaneous mouse mutation in the Kcne1 gene.
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.
authors.affiliation: The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA. val@jax.org
authors.forename: V A
authors.initials: VA
authors.lastname: Letts
authors.forename: A
authors.initials: A
authors.lastname: Valenzuela
authors.forename: C
authors.initials: C
authors.lastname: Dunbar
authors.forename: Q Y
authors.initials: QY
authors.lastname: Zheng
authors.forename: K R
authors.initials: KR
authors.lastname: Johnson
authors.forename: W N
authors.initials: WN
authors.lastname: Frankel
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D004423:Ear / Q000502:physiology; D006309:Hearing / Q000235:genetics; D051379:Mice; D008810:Mice, Inbred C57BL; D008808:Mice, Inbred CBA; D008811:Mice, Inbred DBA; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated
chemical_list: D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C059983:potassium channel protein I(sk)