这种自发突变发生在Jackson实验室。通过序列分析检测到第4外显子有一个17bp的缺失。 Western blot结果显示肾和脑组织中没有可检测到的蛋白表达。(来源:J:136097)
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This spontaneous mutation arose at The Jackson Laboratory. A 17 bp deletion in exon 4 was detected through sequence analysis. Western blot analysis indicated that no detectable protein product is expressed in kidney and brain tissues. (J:136097)