在exon 10的剪接接受位点上发现了一个T到G的单点突变,预测会导致mRNA的剪接异常。编码蛋白在胚胎组织的 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 T-to-G single point mutation in the exon 10 splice acceptor site is predicted to result in a splicing defect in the mRNA. The encoded protein was not detected on Western blot of embryonic tissue, suggesting that this allele is null. (J:201508)