Molecular analysis of the CNTN4 knockout mice

CNTN4基因敲除小鼠的分子分析

• 批准号: 21590359
• 负责人: IWAKI Akiko
• 金额: $ 2.91万
• 依托单位: Kyushu University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (C)
• 财政年份: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2011
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21590359/
• 关键词: 遺伝子改変マウス; 自閉症; 細胞接着因子; ゲノム; ゲノム医科学

Contactin 4(Cntn4) is a member of the immunoglobulin super family of axon associated adhesion molecule. Recently, copy number variations of CNTN4 have been detected in several studies on autism spectrum disorders. To explore the dosage effect of Cntn4, we generated mice with targeted disruption of Cntn4. The knockout(KO) mice were viable and fertile and developed normally. Microarray analyses of the prefrontal cortex and olfactory bulb of KO mice revealed several hundred genes with altered expression levels in comparison with the wild type mice.

Contactin 4(Cntn4) 是轴突相关粘附分子免疫球蛋白超家族的成员。最近，在多项关于自闭症谱系障碍的研究中检测到了 CNTN4 的拷贝数变异。为了探索 Cntn4 的剂量效应，我们培育了靶向破坏 Cntn4 的小鼠。基因敲除（KO）小鼠具有存活能力、可生育能力且发育正常。对 KO 小鼠前额皮质和嗅球的微阵列分析显示，与野生型小鼠相比，数百个基因的表达水平发生了变化。

项目成果

Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family

日本痉挛性截瘫 4 型家族中 SPAST 和 DPY30 部分缺失

• 发表时间: 2011
• 期刊: Neurogenetics
• 影响因子: 2.2
• 作者: Miura;S.;Shibata;H.;Kida;H.;Noda;K.;Toyama;T.;Iwasaki;N.;Iwaki;A.;Ayabe;M.;Aizawa;H.;Taniwaki;T. and Fukumaki;Y.
• 通讯作者: Y.

Adult-onset spastic paraplegia type 2 with a novel mutation in exon 7 of PLP1An autopsy case

成人发病的2型痉挛性截瘫伴PLP1外显子7新突变尸检一例

• 发表时间: 2009
• 作者: Iwaki A;Suzuki SO;Arakawa K;Furuya H;Fujii N;Fukumaki Y;and Iwaki T.
• 通讯作者: and Iwaki T.

Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion

• DOI: 10.1016/j.braindev.2012.02.006
• 发表时间: 2012-11-01
• 期刊: BRAIN & DEVELOPMENT
• 影响因子: 1.7
• 作者: Torisu, Hiroyuki;Iwaki, Akiko;Hara, Toshiro
• 通讯作者: Hara, Toshiro

An autopsy case of adult-onset hereditary spastic paraplegia type 2 with a novel mutation in exon 7 of the proteolipid protein 1 gene

成人发病的遗传性痉挛性截瘫 2 型尸检病例，蛋白脂质蛋白 1 基因外显子 7 出现新突变

• 发表时间: 2011
• 期刊: Acta Neuropathol
• 影响因子: 12.7
• 作者: Suzuki SO;Iwaki T;Arakawa K;Furuya H;Fujii N;Iwaki A
• 通讯作者: Iwaki A

Molecular mechanisms of behavioral abnormalities of knockout mice of Grm3

Grm3基因敲除小鼠行为异常的分子机制

• 发表时间: 2011
• 作者: Fujioka;et al
• 通讯作者: et al