| First Author | Letts VA | Year | 2000 |
| Journal | Mamm Genome | Volume | 11 |
| Issue | 10 | Pages | 831-5 |
| PubMed ID | 11003695 | Mgi Jnum | J:64772 |
| Mgi Id | MGI:1889966 | Doi | 10.1007/s003350010178 |
| Citation | Letts VA, et al. (2000) A new spontaneous mouse mutation in the kcne1 gene. Mamm Genome 11(10):831-5 |
| abstractText | 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. |
