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Generation of an 870 kb deletion encompassing the Skt/Etl4 locus by combination of inter- and intra-chromosomal recombination

机译:通过染色体间和染色体内重组的结合产生一个包含Skt / Etl4基因座的870kb缺失

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摘要

BackgroundEtl4lacZ (Enhancer trap locus 4) and SktGt (Sickle tail) are lacZ reporter gene integrations into the same locus on mouse chromosome 2 targeting a gene that is expressed in the notochord of early embryos and in multiple epithelia during later development. Both insertions caused recessive mutations that resulted exclusively in mild defects in the caudal vertebral column. Since notochord-derived signals are essential for formation of the vertebral column the phenotypes suggested that the lacZ insertions interfered with some notochord-dependent aspect of vertebral development. As both insertions occurred in introns it was unclear whether they represent hypomorphic alleles or abolish gene function. Here, we have generated a definitive null allele of the Skt/Etl4 gene and analysed homozygous mutants.
机译:BackgroundEtl4 lacZ (增强子陷阱基因座4)和Skt Gt (镰刀尾)是lacZ报告基因整合到小鼠染色体2的同一基因座中,靶向在该基因中表达的基因。早期胚胎的脊索和后期发育中的多个上皮细胞。两次插入均引起隐性突变,仅导致尾椎柱的轻度缺陷。由于脊索来源的信号对于脊柱的形成至关重要,因此表型表明lacZ插入会干扰脊索依赖的某些椎骨发育方面。由于这两种插入均发生在内含子中,因此尚不清楚它们是否代表亚型等位基因或废除基因功能。在这里,我们已经生成了Skt / Etl4基因的确定无效等位基因,并分析了纯合突变体。

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