Kit无义突变致W-3Bao小鼠生殖腺异常及纯合子贫血死亡 |
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引用本文: | 吴培林,尹洪萍,殷黎静,朱 洁,曾咏梅,刘桂杰,亢晓冬,俞利平,顾美儿,袁 红,吴宝金. Kit无义突变致W-3Bao小鼠生殖腺异常及纯合子贫血死亡[J]. 动物学研究, 2009, 30(1): 45-52 |
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作者姓名: | 吴培林 尹洪萍 殷黎静 朱 洁 曾咏梅 刘桂杰 亢晓冬 俞利平 顾美儿 袁 红 吴宝金 |
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作者单位: | .杭州师范大学 实验动物科学实验室,浙江 杭州 310036;.扬州大学 比较医学中心,江苏 扬州 225001 |
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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。
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关 键 词: | W-3Bao小鼠;Kit基因;死亡;大红细胞贫血;生殖腺异常 |
收稿时间: | 2008-10-14 |
Gonadial Abnormality and Homozygous Decease from the Nonsense Mutation of Kit in W-3Bao Mouse |
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Affiliation: | . Laboratory of Experimental Animal Science Hangzhou Normal University, Hangzhou 310036; . Comparative Medicine Center of Yangzhou University , Yangzhou 225009
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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 pregnant 16.5 days. 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. |
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Keywords: | W-3Bao mouse Kit gene Decease Macrocytic anemia Gonadial abnormality |
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