智力障碍在世界范围的患病率约为1～3%，既给患者及其家庭带来沉重负担，

The prevalence of mental retardation in the world is about 1 to 3%, both heavy burden on patients and their families, it also brings many problems to society and education. Human chromosome 2q35 variation with intellectual disabilities exist in close contact, Tmem169 gene in this chromosomal region. Our previous study found that Tmem169 gene is highly expressed in the brain, increased expression during neural development, Tmem169 interference suppression neurodevelopmental gene expression, overexpression Tmem169 promote nerve growth. We speculate that Tmem169 gene expression may be an important cause of disorder resulting from mutations in the chromosome 2q35 mental retardation. This study produced Tmem169 knockout and transgenic mice, of mouse embryos in utero electroporation its role in neural development as well as in the pathogenesis of mental disorders in combination; we will use protein immunoprecipitation and mass spectrometry analysis Tmem169 play the role of signaling pathways involved. Its findings not only confirm the role of Tmem169 first gene in neural development, but also will enrich our understanding of the pathogenesis of mental retardation, to provide new ideas for treatment, clinical screening for mental retardation chromosome variation, improve population quality to provide a theoretical in accordance with.

The prevalence of intellectual disability in the world is about 1 to 3%, which not only places a heavy burden on patients and their families, but also causes many problems for society and education. The human chromosome 2q35 mutation is closely related to intellectual impairment, and the Tmem169 gene is in this chromosomal region. Our previous studies have found that the Tmem169 gene is highly expressed in the brain, elevated in neurodevelopment, interferes with the expression of the Tmem169 gene inhibits neurodevelopment, and over-expression Tmem169 promotes neurodevelopment. We speculate that the Tmem169 gene expression disorder may be an important cause of intellectual disability caused by the 2q35 chromosome mutation. In this study, the study intends to produce Tmem169 gene knockout and genetically modified mice, combined with intrauterine embryo electroperforation techniques in mice to study its role in neurodevelopment and the onset of intellectual disorders; The results of the study not only confirm the role of Tmem169 gene in neurodevelopment for the first time, but also enrich our understanding of the pathogenesis of intellectual disability, provide new ideas for its treatment, and provide theoretical basis for clinical screening of chromosome variation of intellectual disability and improving the quality of the population.

The prevalence of mental disorders in the world is about 1-3%, which not only brings heavy burden to patients and their families, but also brings many problems to society and education. The variation of human chromosome 2q35 is closely related to mental retardation, and tmem169 gene is located in this region. Our previous study found that tmem169 gene was highly expressed in the brain and increased in the process of neural development, interfering with tmem169 gene expression and inhibiting neural development, and overexpression tmem169 promoted neural development. We speculate that the dysregulation of tmem169 gene expression may be an important cause of mental retardation caused by 2q35 chromosomal variation. In this study, tmem169 gene knockout and transgenic mice will be made, and the role of tmem169 in neural development and in the pathogenesis of mental disorders will be studied by combining with mouse intrauterine embryo electroporation technology; we will also use protein immunoprecipitation and mass spectrometry to study the signal pathway involved in the role of tmem169. The results of this study can not only confirm the role of tmem169 gene in neurodevelopment for the first time, but also enrich our understanding of the pathogenesis of mental disorders, provide new ideas for its treatment, and provide theoretical basis for clinical screening of chromosomal variation of mental disorders and improving population quality.<br>