Arhgef9-KO 基因敲除小鼠

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产品名称

Arhgef9-KO 基因敲除小鼠

产品编号

S-KO-06869

品系全称

C57BL/6NCya-Arhgef9em1/Cya

品系背景

C57BL/6NCya

品系编号

KOCMP-236915-Arhgef9-B6N-VA

品系状态

使用本品系发表的文献需注明: Arhgef9-KO 基因敲除小鼠 mice (Strain S-KO-06869) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
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小计:
询价

基本信息

基因研究概述

质控标准

基因
基因全称
CDC42 guanine nucleotide exchange factor 9
基因别称
9630036L12Rik
染色体号
Chr X (Mouse)
转录本 ID
NCBI: NM_001290385 | Ensembl: ENSMUST00000113876
修饰方式
全身性基因敲除
靶向范围
Exon 2
敲除长度
~0.2 kb
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:2442233Male mice hemizygous for a null allele exhibit impaired spatial learning, increased anxiety-associated behaviors, and altered central nervous system synaptic transmission.
ARHGEF9,也称为Cdc42 Guanine Nucleotide Exchange Factor 9,编码一个名为collybistin的蛋白质。Collybistin是一个重要的细胞内信号传导蛋白,参与调节细胞骨架动力学和突触功能。它通过直接与细胞黏附分子neuroligin-2和GABAA受体α2亚基相互作用,在抑制性突触的形成和功能中发挥关键作用。ARHGEF9基因的突变与多种神经发育障碍有关,包括智力障碍、癫痫、行为异常和睡眠障碍。

多篇研究表明,ARHGEF9基因的变异与多种神经发育障碍有关。例如,一篇研究表明,ARHGEF9基因的变异与发育迟缓、癫痫、癫痫性脑病和自闭症谱系障碍等多种临床表型有关[1]。另一篇研究则发现,ARHGEF9基因的突变与智力障碍和感觉超敏有关[3]。此外,还有研究报道了ARHGEF9基因的变异与自闭症谱系障碍有关[5]。

ARHGEF9基因的变异还与其他疾病有关。例如,一篇研究报道了ARHGEF9基因的变异与多发性硬化有关[2]。另一篇研究则发现,ARHGEF9基因的变异与绵羊的繁殖性状有关[4]。

综上所述,ARHGEF9基因的变异与多种神经发育障碍和其他疾病有关。这些研究结果有助于深入理解ARHGEF9基因的功能和突变导致的疾病发生机制,为相关疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Yang, Haiyan, Liao, Hongmei, Gan, Siyi, Xiao, Ting, Wu, Liwen. 2022. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. In Molecular genetics & genomic medicine, 10, e1967. doi:10.1002/mgg3.1967.
8. Marco, E J, Abidi, F E, Bristow, J, Schwartz, C E, Sherr, E H. 2009. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. In BMJ case reports, 2009, . doi:10.1136/bcr.06.2009.1999.
9. Tao, Meini, Li, Zhiqiang, Liu, Meng, Ma, Haiyu, Liu, Wujun. 2024. Association analysis of polymorphisms in SLK, ARHGEF9, WWC2, GAB3, and FSHR genes with reproductive traits in different sheep breeds. In Frontiers in genetics, 15, 1371872. doi:10.3389/fgene.2024.1371872.
10. Bhat, Gifty, LaGrave, Danielle, Millson, Alison, Lamb, Allen N, Matalon, Reuben. 2016. Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. In European journal of medical genetics, 59, 470-3. doi:10.1016/j.ejmg.2016.05.014.
参考文献:
1. Yang, Haiyan, Liao, Hongmei, Gan, Siyi, Xiao, Ting, Wu, Liwen. 2022. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration. In Molecular genetics & genomic medicine, 10, e1967. doi:10.1002/mgg3.1967. https://pubmed.ncbi.nlm.nih.gov/35638461/
2. Adinolfi, Annalisa, Di Sante, Gabriele, Rivignani Vaccari, Luca, Sette, Claudio, Geloso, Maria Concetta. 2023. Regionally restricted modulation of Sam68 expression and Arhgef9 alternative splicing in the hippocampus of a murine model of multiple sclerosis. In Frontiers in molecular neuroscience, 15, 1073627. doi:10.3389/fnmol.2022.1073627. https://pubmed.ncbi.nlm.nih.gov/36710925/
3. Marco, E J, Abidi, F E, Bristow, J, Schwartz, C E, Sherr, E H. 2009. ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal. In BMJ case reports, 2009, . doi:10.1136/bcr.06.2009.1999. https://pubmed.ncbi.nlm.nih.gov/21731583/
4. Tao, Meini, Li, Zhiqiang, Liu, Meng, Ma, Haiyu, Liu, Wujun. 2024. Association analysis of polymorphisms in SLK, ARHGEF9, WWC2, GAB3, and FSHR genes with reproductive traits in different sheep breeds. In Frontiers in genetics, 15, 1371872. doi:10.3389/fgene.2024.1371872. https://pubmed.ncbi.nlm.nih.gov/38680425/
5. Bhat, Gifty, LaGrave, Danielle, Millson, Alison, Lamb, Allen N, Matalon, Reuben. 2016. Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. In European journal of medical genetics, 59, 470-3. doi:10.1016/j.ejmg.2016.05.014. https://pubmed.ncbi.nlm.nih.gov/27238888/