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An ENU-induced mutation (repro23) of mouse showing arrest of spermatogenesis at meiotic prophase I

机译：ENU诱导的小鼠突变（repro23）在减数分裂前期I表现出精子发生停止

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Repro23 is an ENU-induced mutation of mouse produced by the reproductive genomics program at The Jackson Laboratory. The repro23/repro23 homozygous mice showed male specific infertility with remarkably low testis weight and azospermia caused by arrest of spermatogenesis. The repro23 locus has been mapped on mouse chromosome 7. In the present study, histological analysis and TUNEL assay of the affected testis demonstrated that spermatogenesis was interrupted at earlier than pachytene stage of meiotic prophase I. The expression analysis of marker genes expressed in particular stages of spermatogenesis by semi-quantitative RT-PCR indicated that the genes expressed in the later stages of spermatogenesis was not detected in the affected testis. Furthermore, expression of the genes involved in DNA double-strand break repair and mismatch repair is significantly reduced in the affected testis. Since the DNA double-strand break repair and mismatch repair are essential for progression of homologous recombination, the arrest of spermatogenesis in the repro23/repro23 mouse was suggested to be caused by defect of homologous recombination during meiotic prophase I. By linkage analysis using F_2 mice obtained from mating between repro23 and JF1/Ms mice, the repro23 locus was mapped on a 2 Mb-region of mouse chromosome 7. Since this region contained no known gene associated with meiosis, the gene for the repro23 mutation will be a novel gene essential for progression of meiosis.
机译：Repro23是由杰克逊实验室（Jackson Laboratory）的生殖基因组计划产生的一种ENU诱导的小鼠突变。 repro23 / repro23纯合小鼠表现出雄性特异性不育，睾丸重量显着降低，精子发生停止导致无精症。 repro23基因座已定位在小鼠7号染色体上。在本研究中，对受影响的睾丸进行组织学分析和TUNEL分析表明，精子发生在减数分裂前期I的粗线期之前中断。在特定阶段表达的标记基因的表达分析半定量RT-PCR检测精子发生的过程表明，在受影响的睾丸中未检测到精子发生后期表达的基因。此外，在受影响的睾丸中，涉及DNA双链断裂修复和错配修复的基因的表达显着降低。由于DNA双链断裂修复和错配修复对于同源重组的进展至关重要，因此建议repro23 / repro23小鼠精子发生的停止是由减数分裂前期I期间同源重组的缺陷引起的。通过使用F_2小鼠进行连锁分析从repro23和JF1 / Ms小鼠之间交配获得的repro23基因座位于小鼠染色体7的2 Mb区域。由于该区域不包含与减数分裂相关的已知基因，因此repro23突变的基因将是一个新的必需基因减数分裂的进展。

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