A new spontaneous mouse mutation in the kcne1 gene [In Process Citation]
Mamm Genome 2000 Oct; 11(10):831-5.
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.; Valenzuela, A; Dunbar, C; Zheng, Q Y.; Johnson, K R.; and Frankel, W N., " A new spontaneous mouse mutation in the kcne1 gene [In Process Citation]" (2000). Faculty Research 2000 - 2009. 116.