Referenced in: none

Automatically associated channels: Kir2.3

Title: A new spontaneous mouse mutation in the Kcne1 gene.

Authors: V A Letts, A Valenzuela, C Dunbar, Q Y Zheng, K R Johnson, W N Frankel

Journal, date & volume: Mamm. Genome, 2000 Oct , 11, 831-5

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11003695

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.