Rapgef6-KO 基因敲除小鼠

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产品名称

Rapgef6-KO 基因敲除小鼠

产品编号

S-KO-03938

品系全称

C57BL/6JCya-Rapgef6em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-192786-Rapgef6-B6J-VA

品系状态

使用本品系发表的文献需注明: Rapgef6-KO 基因敲除小鼠 mice (Strain S-KO-03938) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
Rap guanine nucleotide exchange factor (GEF) 6
基因别称
A530068K01,C030018K18Rik,PDZ-GEF2,Pdzgef2,RA-GEF-2,Ragef2,mKIAA4052
染色体号
Chr 11 (Mouse)
转录本 ID
NCBI: NM_001252494.1 | Ensembl: ENSMUST00000207429
修饰方式
全身性基因敲除
靶向范围
Exon 9~12
敲除长度
~9041 bp
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:2384761Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.
Rapgef6,也称为Rap guanine nucleotide exchange factor 6,是一种重要的Rap1鸟嘌呤核苷酸交换因子。Rap1是一种小GTP酶,参与细胞骨架组织、细胞粘附、细胞增殖和分化等多种细胞过程。Rapgef6通过促进Rap1的GTPase活性,使其从GDP结合状态转变为GTP结合状态,从而激活Rap1的下游信号通路,影响细胞功能。Rap1信号通路在许多生物学过程中发挥重要作用,包括细胞粘附、细胞增殖和分化等。

Rapgef6在多种疾病中发挥重要作用,包括乳腺癌、慢性嗜酸性粒细胞白血病、精神分裂症、产蛋率、喉麻痹和疟疾等。在乳腺癌中,Rapgef6被确定为重要的顶点基因,可能与乳腺癌的发生和发展有关[1]。在慢性嗜酸性粒细胞白血病中,ETV6::RAPGEF6融合基因与IL3的过表达有关,可能与肿瘤的发生有关[2]。在精神分裂症中,Rapgef6的缺失导致杏仁核功能受损,可能与精神分裂症的病理生理机制有关[3]。此外,Rapgef6基因多态性与中国景洪鸡的产蛋率有关[4],RAPGEF6基因的变异是犬喉麻痹的主要遗传风险因素[5],Rapgef6基因与疟疾感染和系统性红斑狼疮患者的基因表达有关[6][7]。Rapgef6基因的突变与恶性胸膜间皮瘤的非上皮样亚型有关,突变还与无进展生存期(PFS)延长有关[8]。

综上所述,Rapgef6是一种重要的Rap1鸟嘌呤核苷酸交换因子,参与细胞骨架组织、细胞粘附、细胞增殖和分化等多种细胞过程。Rapgef6在多种疾病中发挥重要作用,包括乳腺癌、慢性嗜酸性粒细胞白血病、精神分裂症、产蛋率、喉麻痹和疟疾等。Rapgef6的研究有助于深入理解Rap1信号通路的生物学功能和疾病发生机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Jung, Hee Chan, Kim, Sung Hwan, Lee, Jeong Hoon, Kim, Ju Han, Han, Sung Won. 2017. Gene Regulatory Network Analysis for Triple-Negative Breast Neoplasms by Using Gene Expression Data. In Journal of breast cancer, 20, 240-245. doi:10.4048/jbc.2017.20.3.240. https://pubmed.ncbi.nlm.nih.gov/28970849/
2. Iberti, Mathilde, Loschi, Michael, Keslair, Frédérique, Cluzeau, Thomas, Dadone-Montaudié, Bérengère. 2025. Novel ETV6::RAPGEF6 fusion gene in chronic eosinophilic leukemia: compiling evidence on the role of IL3 overexpression in tumorigenesis. In Annals of hematology, , . doi:10.1007/s00277-025-06217-0. https://pubmed.ncbi.nlm.nih.gov/39923209/
3. Levy, R J, Kvajo, M, Li, Y, Karayiorgou, M, Gogos, J A. 2015. Deletion of Rapgef6, a candidate schizophrenia susceptibility gene, disrupts amygdala function in mice. In Translational psychiatry, 5, e577. doi:10.1038/tp.2015.75. https://pubmed.ncbi.nlm.nih.gov/26057047/
4. Azmal, Syed Ali, Bhuiyan, Ali Akbar, Omar, Abdullah Ibne, Zhao, Shuhong, Li, Shijun. 2019. Novel Polymorphisms in RAPGEF6 Gene Associated with Egg-Laying Rate in Chinese Jing Hong Chicken using Genome-Wide SNP Scan. In Genes, 10, . doi:10.3390/genes10050384. https://pubmed.ncbi.nlm.nih.gov/31137587/
5. Hadji Rasouliha, Sheida, Barrientos, Laura, Anderegg, Linda, Rösch, Sarah, Leeb, Tosso. 2019. A RAPGEF6 variant constitutes a major risk factor for laryngeal paralysis in dogs. In PLoS genetics, 15, e1008416. doi:10.1371/journal.pgen.1008416. https://pubmed.ncbi.nlm.nih.gov/31647804/
6. Lindholm, Evita Maria, Leivonen, Suvi-Katri, Undlien, Eldri, Børresen-Dale, Anne-Lise, Kleivi, Kristine. . miR-342-5p as a Potential Regulator of HER2 Breast Cancer Cell Growth. In MicroRNA (Shariqah, United Arab Emirates), 8, 155-165. doi:10.2174/2211536608666181206124922. https://pubmed.ncbi.nlm.nih.gov/30520388/
7. Nambou, Komi, Nie, Xiaoling, Tong, Yin, Anakpa, Manawa. 2021. Weighted gene co-expression network analysis and drug-gene interaction bioinformatics uncover key genes associated with various presentations of malaria infection in African children and major drug candidates. In Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases, 89, 104723. doi:10.1016/j.meegid.2021.104723. https://pubmed.ncbi.nlm.nih.gov/33444859/
8. Gui, Jiajun, Fang, Mengyuan, Tu, Jianxin, Chen, Xiaowei, Sun, Li. 2024. Exploring genetic and immune cell dynamics in systemic lupus erythematosus patients with Epstein-Barr virus infection via machine learning. In Rheumatology (Oxford, England), , . doi:10.1093/rheumatology/keae537. https://pubmed.ncbi.nlm.nih.gov/39361430/