Fanci-KO 基因敲除小鼠

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产品名称

Fanci-KO 基因敲除小鼠

产品编号

S-KO-04606

品系全称

C57BL/6JCya-Fanciem1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-208836-Fanci-B6J-VA

品系状态

使用本品系发表的文献需注明: Fanci-KO 基因敲除小鼠 mice (Strain S-KO-04606) 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
Fanconi anemia, complementation group I
基因别称
-
染色体号
Chr 7 (Mouse)
转录本 ID
NCBI: NM_145946.2 | Ensembl: ENSMUST00000036865
修饰方式
全身性基因敲除
靶向范围
Exon 4~11
敲除长度
~9429 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:2384790Mice homozygous for a null allele exhibit male and female infertility associated with male germ cell apoptosis and increased accumulation of H3K9me3 on sex chromosomes. Mice homozygous for a gene trapped allele exhibit infertility, absent mature gametes, occasional fused digits, malocclusion, abnormal craniafacial morphology, increased cellular sensitivity to DNA damaging agents, microphthalmia, reduced body size, and inccompelte embryonic lethality.
FANCI是Fanconi贫血症(FA)相关基因之一,它参与了DNA损伤修复过程,尤其是在DNA交联修复中发挥着关键作用。FANCI与FANCD2形成异源二聚体,并共同参与单泛素化修饰,这是FA通路的核心事件之一。该通路通过修复DNA交联和维持基因组稳定性来响应复制应激。FANCI在细胞中的表达水平与多种癌症的发生和发展密切相关,包括卵巢癌、皮肤黑色素瘤、宫颈癌、肺癌等[1,2,3,4,5,6,7,8]。

FANCI在卵巢癌中的作用已被多个研究证实。有研究发现,在卵巢癌患者中,FANCI基因的突变频率较高,且与卵巢癌的发病风险相关[1,6]。此外,FANCI的表达水平与卵巢癌患者的预后相关,高表达FANCI的患者往往具有较差的生存率[1,6]。在皮肤黑色素瘤中,FANCI的表达水平与免疫浸润相关,且高表达FANCI的患者更容易出现免疫抑制,这可能与FANCI在调节免疫反应中的作用有关[2]。在宫颈癌中,FANCI的表达水平与肿瘤浸润免疫细胞水平相关,提示FANCI可能通过调节免疫反应影响宫颈癌的发生和发展[4]。

除了在肿瘤中的作用外,FANCI还与一些非肿瘤性疾病相关。例如,有研究发现FANCI基因的突变与卵巢功能不全相关,这可能与其在DNA损伤修复中的作用有关[7]。此外,FANCI还与其他一些疾病相关,如先天性骨髓发育不良综合征等[5]。

FANCI的表达和功能受到多种因素的调控。例如,miRNA-218可以负调控FANCI的表达,从而影响肺癌的转移和预后[8]。此外,UBE2T可以与FANCI结合并调节其单泛素化水平,进而影响细胞生长、迁移和上皮-间质转化(EMT)等生物学过程[9]。

综上所述,FANCI是一种重要的DNA损伤修复基因,其表达和功能与多种疾病的发生和发展密切相关。FANCI的研究有助于深入理解DNA损伤修复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. Fierheller, Caitlin T, Alenezi, Wejdan M, Serruya, Corinne, Ragoussis, Jiannis, Tonin, Patricia N. 2023. Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene. In Genes, 14, . doi:10.3390/genes14020277. https://pubmed.ncbi.nlm.nih.gov/36833203/
2. Cai, Zhenguo, Duan, Yanjuan, Li, Wen, Bi, Xinling, Wang, Wuqing. 2023. FANCI serve as a prognostic biomarker correlated with immune infiltrates in skin cutaneous melanoma. In Frontiers in immunology, 14, 1295831. doi:10.3389/fimmu.2023.1295831. https://pubmed.ncbi.nlm.nih.gov/38077326/
3. Lemonidis, Kimon, Arkinson, Connor, Rennie, Martin L, Walden, Helen. 2021. Mechanism, specificity, and function of FANCD2-FANCI ubiquitination and deubiquitination. In The FEBS journal, 289, 4811-4829. doi:10.1111/febs.16077. https://pubmed.ncbi.nlm.nih.gov/34137174/
4. Liu, Xiaoling, Liu, Xiqin, Han, Xia. . FANCI may serve as a prognostic biomarker for cervical cancer: A systematic review and meta-analysis. In Medicine, 100, e27690. doi:10.1097/MD.0000000000027690. https://pubmed.ncbi.nlm.nih.gov/34941027/
5. Meijer, Gerrit A. . The 13th Fanconi anemia gene identified: FANCI--importance of the 'Fanconi anemia pathway' for cellular oncology. In Cellular oncology : the official journal of the International Society for Cellular Oncology, 29, 181-2. doi:. https://pubmed.ncbi.nlm.nih.gov/17452769/
6. Fierheller, Caitlin T, Guitton-Sert, Laure, Alenezi, Wejdan M, Masson, Jean-Yves, Tonin, Patricia N. 2021. A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene. In Genome medicine, 13, 186. doi:10.1186/s13073-021-00998-5. https://pubmed.ncbi.nlm.nih.gov/34861889/
7. Cao, Lili, He, Xinmiao, Ren, Jiayi, Zhao, Shidou, Yang, Yajuan. 2024. Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency. In Human genetics, 143, 357-369. doi:10.1007/s00439-024-02650-9. https://pubmed.ncbi.nlm.nih.gov/38483614/
8. Ye, Guanchao, Liu, Yafei, Huang, Lan, Wu, Chunli, Qi, Yu. . miRNA-218/FANCI is associated with metastasis and poor prognosis in lung adenocarcinoma: a bioinformatics analysis. In Annals of translational medicine, 9, 1298. doi:10.21037/atm-21-3823. https://pubmed.ncbi.nlm.nih.gov/34532435/
9. Zhang, Jiguang, Wang, Jingdong, Wu, Jincheng, Lin, Zhaoxian, Lin, Xing. 2022. UBE2T regulates FANCI monoubiquitination to promote NSCLC progression by activating EMT. In Oncology reports, 48, . doi:10.3892/or.2022.8350. https://pubmed.ncbi.nlm.nih.gov/35703356/