Synj2-flox 基因敲除小鼠

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产品名称

Synj2-flox 基因敲除小鼠

产品编号

S-CKO-18518

品系全称

C57BL/6JCya-Synj2em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-20975-Synj2-B6J-VC

品系状态

使用本品系发表的文献需注明: Synj2-flox 基因敲除小鼠 mice (Strain S-CKO-18518) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
cKO小鼠库模型

基本信息

基因研究概述

质控标准

基因
基因全称
synaptojanin 2
基因别称
SJ2,mKIAA0348
染色体号
Chr 17 (Mouse)
转录本 ID
NCBI: NM_001113353 | Ensembl: ENSMUST00000115791
修饰方式
条件性基因敲除
靶向范围
Exon 12~13
敲除长度
~3.5 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:1201671Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed.
Synj2,也称为Synaptojanin 2,是一种编码5'-inositol脂质磷酸酶的基因。该基因编码的蛋白质在多种生物学过程中发挥重要作用,包括细胞信号传导、细胞凋亡、细胞增殖和肿瘤发生等。Synj2在神经系统中也具有重要作用,参与神经元突触的形成和功能维持。

Synj2在多种肿瘤中发挥重要作用,包括肺癌、肝癌、甲状腺癌、乳腺癌和胃癌等。在肺癌中,Synj2的表达水平与患者预后相关,高表达预示着较差的预后[1]。在肝癌中,Synj2的表达水平也与患者预后相关,高表达预示着较差的预后[2]。在甲状腺癌中,Synj2的表达水平与肿瘤进展相关,高表达预示着较差的预后[3]。在乳腺癌中,Synj2的扩增和过表达与患者预后相关,高表达预示着较差的预后[4]。在胃癌中,Synj2的表达水平与肿瘤转移和血管生成相关,高表达预示着较差的预后[6]。

除了在肿瘤中的作用,Synj2还与其他多种疾病相关,包括年龄相关性听力损失、阿尔茨海默病和认知能力等。在年龄相关性听力损失中,Synj2的罕见变异与听力损失相关[5]。在阿尔茨海默病中,Synj2与其他基因的相互作用与脑室体积的变化相关[7]。在认知能力中,Synj2的变异与认知能力和认知老化相关[8]。

综上所述,Synj2是一种编码5'-inositol脂质磷酸酶的基因,在多种生物学过程中发挥重要作用。Synj2在肿瘤、年龄相关性听力损失、阿尔茨海默病和认知能力等多种疾病中发挥重要作用。Synj2的研究有助于深入理解其在疾病发生发展中的作用机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Hou, Wei, Li, Guo-Sheng, Gao, Li, Xia, Shuang, Wei, Hong-Yu. 2022. SYNJ2 is a novel and potential biomarker for the prediction and treatment of cancers: from lung squamous cell carcinoma to pan-cancer. In BMC medical genomics, 15, 114. doi:10.1186/s12920-022-01266-0. https://pubmed.ncbi.nlm.nih.gov/35581615/
2. Zhang, Rui, Mo, Wei-Jia, Huang, Lan-Shan, He, Wei-Ying, Feng, Zhen-Bo. . Identifying the Prognostic Risk Factors of Synaptojanin 2 and Its Underlying Perturbations Pathways in Hepatocellular Carcinoma. In Bioengineered, 12, 855-874. doi:10.1080/21655979.2021.1890399. https://pubmed.ncbi.nlm.nih.gov/33641617/
3. Yang, Yuan-Ping, Huang, Zhi-Guang, Luo, Jia-Yuan, Tang, Yi-Jun, Pang, Yu-Yan. 2024. Comprehensive transcriptome and scRNA-seq analyses uncover the expression and underlying mechanism of SYNJ2 in papillary thyroid carcinoma. In IET systems biology, 18, 183-198. doi:10.1049/syb2.12099. https://pubmed.ncbi.nlm.nih.gov/39370684/
4. Ben-Chetrit, Nir, Chetrit, David, Russell, Roslin, Ehrlich, Marcelo, Yarden, Yosef. 2015. Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer. In Science signaling, 8, ra7. doi:10.1126/scisignal.2005537. https://pubmed.ncbi.nlm.nih.gov/25605973/
5. Cornejo-Sanchez, Diana M, Li, Guangyou, Fabiha, Tabassum, DeWan, Andrew T, Leal, Suzanne M. 2023. Rare-variant association analysis reveals known and new age-related hearing loss genes. In European journal of human genetics : EJHG, 31, 638-647. doi:10.1038/s41431-023-01302-2. https://pubmed.ncbi.nlm.nih.gov/36788145/
6. Ning, Weiwei, Yang, Qingxu, Li, Zhengbiao, Xie, Ming. 2024. The activation of SYNJ2/GRB2 axis accelerates the malignant metastasis and angiogenesis of gastric cancer cells. In Molecular and cellular probes, 78, 101990. doi:10.1016/j.mcp.2024.101990. https://pubmed.ncbi.nlm.nih.gov/39521152/
7. Koran, Mary Ellen I, Hohman, Timothy J, Meda, Shashwath A, Thornton-Wells, Tricia A. . Genetic interactions within inositol-related pathways are associated with longitudinal changes in ventricle size. In Journal of Alzheimer's disease : JAD, 38, 145-54. doi:10.3233/JAD-130989. https://pubmed.ncbi.nlm.nih.gov/24077433/
8. Lopez, Lorna M, Harris, Sarah E, Luciano, Michelle, Starr, John M, Deary, Ian J. 2011. Evolutionary conserved longevity genes and human cognitive abilities in elderly cohorts. In European journal of human genetics : EJHG, 20, 341-7. doi:10.1038/ejhg.2011.201. https://pubmed.ncbi.nlm.nih.gov/22045296/