Systematic genome function analysis based upon intersubspecific comsomic strains

我们用MSM/Ms菌株的染色体替换C57BL/6J菌株的染色体，培育了一系列经济型小鼠菌株。由于C57BL/6J起源于西欧小家鼠亚种，而MSM/Ms起源于亚洲小家鼠亚种，因此已建立的菌株应称为亚种间经济型菌株。通过使用这些小鼠菌株，我们能够定位C57BL/6J和MSM/Ms菌株之间不同的控制表型的基因座。在这项研究中，我们进一步建立了实验系统，使我们能够基于经济菌株的表型探索小鼠基因组功能。首先，我们开发了一套冷冻精子和胚胎保存系统。其次，我们发现x染色体染色体染色体株表现为雄性不育，精子形态异常。我们进行了QTL分析，成功地定位了与该雄性不育有关的三个位点。第三，为了阐明经济菌株可以分析的表型，我们收集了经济亲本菌株C57BL/6j和MSM/Ms的综合表型数据。最后，我们对所有经济菌株的一些形态性状进行表型分析，包括生长曲线和行为性状、焦虑和家庭笼活动。因此，我们可以绘制出许多有趣的表型。

We had developed a series of consomic mouse strains by substituting chromosomes of C57BL/6J strain by corresponding chromosomes of MSM/Ms strain. Because C57BL/6J originated from West European subspecies, Mus musculus domesticus, and MSM/Ms from Asian subspecies, M.m. molossinus, established strains should be referred to as intersubspecific consomic strains. By using these mouse strains, we are able to map loci controlling phenotypes that are different between C57BL/6J and MSM/Ms strains. In this study, we have further established experimental systems that enable us to explore the mouse genome functions, based upon phenotyping of the consomic strains. First, we developed a system for preservation of the strains as frozen sperms and embryos. Second, we found that X-chromosome consomic strain exhibits male sterility with abnormal morphology of sperms. We conducted QTL analysis, and successfully map three loci responsible for this male sterility. Third, in order to elucidate phenotypes that can be analyzed by the consomic strains, we have collected comprehensive, phenotype data of consomic parental stains, C57BL/6j and MSM/Ms. Finally, we executed phenotyping of all consomic strains for some of morphological traits including growth curve and behavioural traits, anxiety and home-cage activity. As a result, we could map a number of intriguing phenotypes.