Kit无义突变致W^(-3Bao)小鼠生殖腺异常及纯合子贫血死亡  

Gonadial Abnormality and Homozygous Decease from the Nonsense Mutation of Kit in W^(-3Bao) Mouse

作　　者：吴培林[1] 尹洪萍[1] 殷黎静 朱洁 曾咏梅 刘桂杰[1] 亢晓冬[1] 俞利平[1] 顾美儿[1] 袁红[1] 吴宝金[1,2] 

机构地区：[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

出　　处：《Zoological Research》2009年第1期45-52,共8页动物学研究（英文）

基　　金：国家自然科学基金面上项目(30670231)资助

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。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 pregnant 16.5days. The extremely low level of haematochrome and big red blood cells of W^-3Bao/3Bao 18.5-day-embryos were found in the inspections of blood routine items and blood smear, which resulted in death of W^-3Bao/3Bao homozygous mouse around being born, and no live postnatal W^3Bao/3Bao mouse was found in this study, No spermatogonium at different developmental stages was found in some contorted seminiferous tubules in adult W^-3Bao/＋ mouse. At the age of 18.5-day embryo, the spermatogonium of W^3Bao/3Bao mice only lied in interstitial tissue and no one lied in contorted seminiferous tubules, while the spermatogonium of W^-3Bao/＋ or W^＋/＋ mice lied in interstitial tissue and in contorted seminiferous tubules in the same time. At the age of 18.5-day embryo, cells arranged irregularly and primordial follicles were not seen in the W^-3Bao/3Bao ovaries, while primordial follicles appeared clearly in the ovaries of W^-3Bao/＋ or W^＋/＋ mice. We concluded that because of the nonsense mutation of Kit gene, the W^-3Bao/＋ mice show white spot and abnormal development of some contorted seminiferous tubules. The W^-3Bao/3Bao mice die around birth resulting from severe macrocytic anemia and show abnormal genital glands of both genders.

关 键 词：W-3Bao小鼠 KIT基因 死亡 大红细胞贫血 生殖腺异常 

分 类 号：Q3[生物学—遗传学]