A new spontaneous mouse mutation in the Kcne1 gene.
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.
Letts
V A
VA
The Jackson Laboratory, 600 Main Street, Bar Harbor, Maine 04609, USA. val@jax.org
Valenzuela
A
A
Dunbar
C
C
Zheng
Q Y
QY
Johnson
K R
KR
Frankel
W N
WN
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
D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated; C059983:potassium channel protein I(sk)