Kit无义突变致W_3Bao_小鼠生殖腺异常及纯合子贫血死亡_吴培林.docx

 PAGE \* MERGEFORMAT 54 动 物 学 研 究 30 卷 1 期 吴培林等：Kit 无义突变致 W-3Bao 小鼠生殖腺异常及纯合子贫血死亡  PAGE \* MERGEFORMAT 53 动 物 学 研 究 2009，Feb. 30(1)：45?52 CN 53-1040/Q ISSN 0254-5853 Zoological Research DOI：10.3724/SP.J.1141.2009.01045 Kit无义突变致W-3Bao小鼠生殖腺异常及纯合子贫血死亡 吴培林1，尹洪萍1，殷黎静2，朱 洁2，曾咏梅2，刘桂杰1，亢晓冬1，俞利平1，顾美儿1，袁 红 1，吴宝金1,2,* （1．杭州师范大学 实验动物科学实验室，浙江 杭州 310036；2．扬州大学 比较医学中心，江苏 扬州 225001） 摘要：W-3Bao是本研究组通过诱变获得、Kit无义突变的白斑小鼠。突变基因杂合子小鼠腹部、四肢肢端及尾尖白化，其部分精曲小管内无精原细胞。突变纯合子小鼠在胚胎后期色泽苍白、个体矮小，于出生前后死亡；血液学检查发现纯合子小鼠血色素极低且红细胞变大；18.5天胚胎的连续切片可见精曲小管轮廓欠清晰，精原细胞分散分布于睾丸间质，未迁入精曲小管；卵巢结构紊乱，无明显的原始卵泡结构；骨髓等器官组织未见显著异常。结论：Kit无义突变不仅导致了W-3Bao杂合子小鼠白斑形成及纯合子小鼠贫血死亡，同时影响生殖腺发育。 关键词：W-3Bao 小鼠；Kit 基因；死亡；大红细胞贫血；生殖腺异常 中图分类号：Q959.837; Q954.4; Q344 文献标识码：A 文章编号：0254-5953-(2009)01-0045-08 Gonadial Abnormality and Homozygous Decease from the Nonsense Mutation of Kit in W-3Bao Mouse WU Pei-lin1, YIN Hong-ping1, YIN Li-jing2, ZHU Jie2, ZENG Yong-mei2, LIU Gui-jie1, KANG Xiao-dong1, YU Li-ping1, GU Mei-er1, YUAN Hong1, WU Bao-jin1,2,* (1. Laboratory of Experimental Animal Science，Hangzhou Normal University, Hangzhou 310036; 2. Comparative Medicine Center of Yangzhou University , Yangzhou 225009) Abstract：The W-3Bao mouse, which was obtained in previous ENU mutagenesis project, is a new mutant caused by the nonsense mutation of Kit gene. Mating and gross observing combining with PCR and sequencing were used for determining the genotypes of the W-3Bao mice. Embryonic development, hematological detection and histopathologic section methods were used for their phenotype analysis. The results showed that the W-3Bao/+ mouse was white belly, white limb terminals and white tail tip. However, there was no difference of the external appearance among the W-3Bao/+, W-3Bao/3Bao and wild type mice for the embryo of 12.5 days. The W-3Bao/3Bao embryos looked pale since pregnant 14.5 days and dwarf since