%0 Journal Article %T Gonadial Abnormality and Homozygous Decease from the Nonsense Mutation of Kit in W-3Bao Mouse
Kit无义突变致W-3Bao小鼠生殖腺异常及纯合子贫血死亡 %A 吴培林 %A 尹洪萍 %A 殷黎静 %A 朱 洁 %A 曾咏梅 %A 刘桂杰 %A 亢晓冬 %A 俞利平 %A 顾美儿 %A 袁 红 %A 吴宝金 %J 动物学研究 %D 2009 %I Chinese Academy of Sciences %X 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. %K W-3Bao mouse %K Kit gene %K Decease %K Macrocytic anemia %K Gonadial abnormality
W-3Bao小鼠 %K Kit基因 %K 死亡 %K 大红细胞贫血 %K 生殖腺异常 %U http://www.alljournals.cn/get_abstract_url.aspx?pcid=90BA3D13E7F3BC869AC96FB3DA594E3FE34FBF7B8BC0E591&jid=7C502F1A6798ACE1B8C57E291C48C7F1&aid=987F2FF394EE886D0CEF86A1881EB218&yid=DE12191FBD62783C&vid=340AC2BF8E7AB4FD&iid=CA4FD0336C81A37A&sid=94E7F66E6C42FA23&eid=286FB2D22CF8D013&journal_id=0254-5853&journal_name=动物学研究&referenced_num=0&reference_num=20