A new spontaneous mouse mutation in the Kcne1 gene.
A new spontaneous mouse mutation in the Kcne1 gene.
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Kcne1 基因中一种新的小鼠自发突变。
DOI：
10.1007/s003350010178
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发表时间：
2000
期刊：
影响因子：
--
通讯作者：
Frankel,WN
中科院分区：
文献类型：
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作者：
Letts,VA;Valenzuela,A;Dunbar,C;Zheng,QY;Johnson,KR;Frankel,WN
一种新的小鼠突变体punk rocker（等位基因符号kcne1pkr）是在C57BL/10J自交系背景下自发产生的，其特征是明显的头部翻转、旋转和失调性表型。它也是严重的双耳失聪。该突变位于第16号染色体上的kcne1基因，并已确定为第三外显子编码区内的单个碱基变化。C到T核苷酸的替换导致精氨酸在67号氨基酸位置被改变为终止密码子，可以预见的是，这将导致显著截断的蛋白质产物。kcne1pk突变体代表了人类疾病Jervell和Lange-Nielsen综合征的第一个自发小鼠模型，该疾病与人类Chr 21上同源KCNE1基因的突变有关。
A new mouse mutant, punk rocker (allele symbolKcne1pkr), 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 theKcne1gene 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. TheKcne1pkrmutant 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.