在exon 42的一个C到T的单点突变预测会导致Q1732变成一个终止密码子,编码的蛋白质在胚胎组织的 Western blot中未检测到,这表明这个等位基因是无功能的。(来源:201508 J)
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A C-to-T single point mutation in exon 42 is predicted to result in a Q1732 to a stop codon in the encoded protein. The encoded protein was not detected on Western blot of embryonic tissue, suggesting that this allele is null. (J:201508)