TANGO2全身敲除小鼠在生理条件下正常发育和繁殖  

Normal development and reproduction in TANGO2 knockout mice under physiological conditions

作　　者：杨辰思 杨中州 YANG Chensi;YANG Zhongzhou(Department of Basic Medicine,School of Medicine,Nanjing University,Nanjing 210093,China)

机构地区：[1]南京大学医学院基础医学系,江苏南京210093

出　　处：《南京医科大学学报（自然科学版）》2023年第6期780-785,801,共7页Journal of Nanjing Medical University(Natural Sciences)

基　　金：国家重点研发计划专项(2019YFA0801601)。

摘　　要：目的:利用运输和高尔基体组织蛋白2同系物(transport and Golgi organization protein 2 homolog,TANGO2)敲除小鼠阐明TANGO2在哺乳动物中的生理功能,探究TANGO2是否是导致DiGeorge综合征发生的候选基因。方法:制备TANGO2敲除小鼠模型,通过实时荧光定量PCR检测该小鼠模型的基因敲除效率。观察并记录野生型、杂合和纯合敲除小鼠的表型和生长繁育情况。通过组织解剖和组织学分析,观察野生型和敲除小鼠的心脏和大脑组织的形态结构。结果:TANGO2 mRNA在野生型小鼠的心脏和大脑中表达,而在敲除小鼠相应组织中的表达水平显著降低。TANGO2敲除小鼠发育正常,能够存活和繁殖,没有明显的表型异常。与野生型同窝仔相比,生存率没有显著差异。组织形态分析显示,新生敲除小鼠和6月龄敲除小鼠的心脏和大脑与野生型之间无明显差异。结论:TANGO2敲除小鼠能够正常发育和繁殖,并且缺乏人类中TANGO2相关疾病或DiGeorge综合征的相关表型。Objective:The transport and Golgi organization protein 2 homolog(TANGO2)knockout mice were generated to elucidate its physiological function in mammals,and to explore whether TANGO2 is a candidate gene responsible for DiGeorge syndrome.Methods:The TANGO2 knockout mouse model was generated,and the knockout efficiency of the mouse model was detected by real⁃time quantitative PCR.The phenotype,growth and breeding of wild⁃type,TANGO2+/⁃and TANGO2⁃/⁃mice were observed and recorded.The morphological structures of heart and brain tissues in wild⁃type and knockout mice were observed through anatomic and histological analysis.Results:The TANGO2 mRNA was expressed in the heart and brain of wild⁃type mice,but its expression level was substantially reduced in the knockout mice.TANGO2 knockout mice could develop,survive and reproduce,and did not exhibit obvious phenotypic abnormalities.Histological analyses of the heart and brain showed no significant differences between knockout mice and wild⁃type mice at birth and 6⁃month⁃old.Conclusion:TANGO2 knockout mice grow and reproduce normally,and lack the phenotype associated with TANGO2⁃related disorders or DiGeorge syndrome in humans.

关 键 词：TANGO2 TANGO2相关疾病 DIGEORGE综合征 心脏发育 神经发育 

分 类 号：R394.1[医药卫生—医学遗传学]