Synrg-flox 基因敲除小鼠

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产品名称

Synrg-flox 基因敲除小鼠

产品编号

S-CKO-06084

品系全称

C57BL/6JCya-Synrgem1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-217030-Synrg-B6J-VA

品系状态

使用本品系发表的文献需注明: Synrg-flox 基因敲除小鼠 mice (Strain S-CKO-06084) 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
synergin, gamma
基因别称
Ap1gbp1,SYNG
染色体号
Chr 11 (Mouse)
转录本 ID
NCBI: NM_194341.2 | Ensembl: ENSMUST00000092834
修饰方式
条件性基因敲除
靶向范围
Exon 3
敲除长度
~622 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
基因SYNRG,也称为synergin gamma,是一种编码分泌载体膜蛋白1(SCAMP1)相关蛋白的基因。SCAMP1是一种普遍存在于回收囊泡中的蛋白,参与介导从质膜、内体和反式高尔基复合体之间的运输。SYNRG含有多个N-末端NPF重复和四个高度保守的跨膜区域。NPF重复通常与EH结构域蛋白相互作用,这些蛋白在从质膜或高尔基复合体出芽运输囊泡中发挥作用。

SYNRG与多种疾病相关,包括遗传性痉挛性截瘫(HSP)、急性淋巴细胞白血病(ALL)和肌萎缩侧索硬化症(ALS)。在HSP中,SYNRG基因与AP-1复合物相互作用,可能导致复杂的遗传性痉挛性截瘫表型。在ALL中,SYNRG是ZNF384融合基因的融合伙伴之一。ZNF384融合基因在B细胞前体急性淋巴细胞白血病(BCP-ALL)中频繁发生,并且通常与良好的预后相关。在ALS中,SYNRG可能参与由长非编码RNA(lncRNA)调节的ceRNA网络,该网络可能在其发病机制中发挥作用。

此外,SYNRG还与肾异常和先天性膈疝相关。17q12微缺失综合征是一种遗传性疾病,与双侧肾脏回声增强和出生后的轻微肾脏异常相关。该综合征涉及17q12区域的缺失,包括SYNRG基因。此外,SYNRG基因的缺失也与先天性膈疝相关。

综上所述,SYNRG是一种重要的基因,参与多种生物学过程和疾病发生。SYNRG在遗传性痉挛性截瘫、急性淋巴细胞白血病和肌萎缩侧索硬化症中发挥作用。此外,SYNRG还与肾异常和先天性膈疝相关。SYNRG的研究有助于深入理解这些疾病的发病机制,并为疾病的治疗和预防提供新的思路和策略[1,2,3,4,5,6,7,8,9,10]。

参考文献:
1. Ayaz, Akif, Uzunhan, Tugce Aksu, Aydin, Kursad. 2022. Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia. In Brain & development, 44, 329-335. doi:10.1016/j.braindev.2022.01.002. https://pubmed.ncbi.nlm.nih.gov/35090779/
2. Zhu, Liwen, Bai, Wenke, Cheng, Qianyi, Fang, Jianpei. . ZNF384-Related Fusion Genes in Acute Lymphoblastic Leukemia. In Cancer control : journal of the Moffitt Cancer Center, 30, 10732748231182787. doi:10.1177/10732748231182787. https://pubmed.ncbi.nlm.nih.gov/37306722/
3. Liu, Dingsheng, Zuo, Xiaojia, Zhang, Peng, Lu, Changlian, Gu, Xuefeng. 2021. The Novel Regulatory Role of lncRNA-miRNA-mRNA Axis in Amyotrophic Lateral Sclerosis: An Integrated Bioinformatics Analysis. In Computational and mathematical methods in medicine, 2021, 5526179. doi:10.1155/2021/5526179. https://pubmed.ncbi.nlm.nih.gov/33953791/
4. Yamamoto, Hideyuki, Hayakawa, Fumihiko, Yasuda, Takahiko, Naoe, Tomoki, Kiyoi, Hitoshi. 2019. ZNF384-fusion proteins have high affinity for the transcriptional coactivator EP300 and aberrant transcriptional activities. In FEBS letters, 593, 2151-2161. doi:10.1002/1873-3468.13506. https://pubmed.ncbi.nlm.nih.gov/31234226/
5. Chen, Chih-Ping, Wu, Fang-Tzu, Pan, Yen-Ting, Wu, Peih-Shan, Wang, Wayseen. . Prenatal diagnosis and perinatal findings of 17q12 microdeletion encompassing HNF1B in a fetus with bilateral hyperechogenic kidneys on fetal ultrasound and mild renal abnormality after birth, and a review of the literature of prenatal diagnosis of 17q12 microdeletion. In Taiwanese journal of obstetrics & gynecology, 63, 77-80. doi:10.1016/j.tjog.2023.10.005. https://pubmed.ncbi.nlm.nih.gov/38216274/
6. Li, Qinlu, Xing, Shugang, Zhang, Heng, Xiao, Min, Wang, Ying. 2024. FISH combined with RT-PCR facilitates classification of Chinese adult patients with B-other ALL through improved identification of ZNF384 rearrangement. In Leukemia & lymphoma, 66, 507-515. doi:10.1080/10428194.2024.2426055. https://pubmed.ncbi.nlm.nih.gov/39520726/
7. Ahmad, Shaniya, Ahmed, Mohd Murshad, Hasan, P M Z, Ishrat, Romana, Syed, Mansoor Ali. 2020. Identification and Validation of Potential miRNAs, as Biomarkers for Sepsis and Associated Lung Injury: A Network-Based Approach. In Genes, 11, . doi:10.3390/genes11111327. https://pubmed.ncbi.nlm.nih.gov/33182754/
8. Fernández-Chacón, R, Achiriloaie, M, Janz, R, Albanesi, J P, Südhof, T C. . SCAMP1 function in endocytosis. In The Journal of biological chemistry, 275, 12752-6. doi:. https://pubmed.ncbi.nlm.nih.gov/10777571/
9. Hendrix, Nancy W, Clemens, Michele, Canavan, Timothy P, Surti, Urvashi, Rajkovic, Aleksandar. 2011. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. In Fetal diagnosis and therapy, 31, 129-33. doi:10.1159/000332968. https://pubmed.ncbi.nlm.nih.gov/22178801/
10. Sun, Y, Cao, F-L, Qu, L-L, Wang, Z-M, Liu, X-Y. . MEG3 promotes liver cancer by activating PI3K/AKT pathway through regulating AP1G1. In European review for medical and pharmacological sciences, 23, 1459-1467. doi:10.26355/eurrev_201902_17103. https://pubmed.ncbi.nlm.nih.gov/30840267/