Fbln1-KO 基因敲除小鼠

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产品名称

Fbln1-KO 基因敲除小鼠

产品编号

S-KO-16025

品系全称

C57BL/6JCya-Fbln1em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-14114-Fbln1-B6J-VA

品系状态

使用本品系发表的文献需注明: Fbln1-KO 基因敲除小鼠 mice (Strain S-KO-16025) 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
fibulin 1
基因别称
-
染色体号
Chr 15 (Mouse)
转录本 ID
NCBI: NM_010180 | Ensembl: ENSMUST00000057410
修饰方式
全身性基因敲除
靶向范围
Exon 3
敲除长度
~1.5 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:95487Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities.
FBLN1,也称为Fibulin-1,是一种在细胞外基质(ECM)中广泛表达的钙结合糖蛋白。它参与了细胞外基质的构建和维护,并在多种生理和病理过程中发挥着重要作用,包括细胞迁移、增殖、分化以及血管生成等。FBLN1通过其与多种蛋白质的相互作用,如层粘连蛋白、胶原蛋白和弹性蛋白等,对细胞外基质的形成和稳定性起着关键作用。

在多种肿瘤类型中,FBLN1的表达模式和功能发生了改变。例如,在黑色素瘤中,FBLN1的表达显著下调,并且其表达水平与患者的总生存期(OS)显著相关。高表达FBLN1的患者具有更好的生存率[1]。此外,FBLN1启动子的超甲基化与黑色素瘤的肿瘤分期和患者的生存时间缩短相关,表明FBLN1可能是一个新的肿瘤抑制基因[2]。

FBLN1的基因位于人类染色体22q13.2-q13.3区域,并在小鼠中位于染色体15的E-F带[6]。基因的突变或表达改变与多种疾病有关,如复合型并指(趾)畸形[3]。FBLN1的异常表达也与阿尔茨海默病(AD)相关,其中FBLN1的表达在AD小鼠模型中升高,提示其可能参与了AD的神经退行性变过程[4]。

FBLN1在软骨细胞的增殖中也发挥着作用,通过增加Smad2的磷酸化来促进软骨细胞的增殖[5]。此外,FBLN1的表达与乳腺癌的预后和免疫浸润相关,其中FBLN1的表达水平与患者的临床预后和肿瘤的转移能力相关[7]。

在舌鳞状细胞癌(TSCC)中,FBLN1的表达也受到启动子区超甲基化的影响,导致其表达下调。通过5-aza-deoxycytidine(5-Aza-dC)处理或FBLN1过表达,可以抑制TSCC细胞的增殖、迁移和侵袭能力[8]。

在胎盘中,FBLN1的表达与胎盘的发育和功能相关。FBLN1的表达在胎盘的特定细胞类型中升高,并且在胎盘过度生长的模型中表达增加[9]。

综上所述,FBLN1在多种生物学过程中发挥着重要作用,其表达和功能的改变与多种疾病相关。FBLN1的研究有助于深入理解其在细胞外基质构建、肿瘤发生发展、神经退行性变和胎盘发育中的作用机制,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. Liu, Xiao-Tian, Liu, Tian-Tian, Wu, Meng-Yuan, Zhuang, Jiang-Xing, Wang, Qin. . Identifying FBLN1 (Gene ID: 2192) as a Potential Melanoma Biomarker for Melanoma based on an Analysis of microRNA Expression Profiles in the GEO and TCGA Databases. In Genetic testing and molecular biomarkers, 25, 68-78. doi:10.1089/gtmb.2020.0274. https://pubmed.ncbi.nlm.nih.gov/33470885/
2. Wu, Bao-Jin, Zhou, Zhao-Ping, Li, Wen-Peng, Liu, Qing-Feng, Jiang, Hua. 2013. Abnormal hypermethylation and clinicopathological significance of FBLN1 gene in cutaneous melanoma. In Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 35, 123-7. doi:10.1007/s13277-013-1015-5. https://pubmed.ncbi.nlm.nih.gov/23907575/
3. Debeer, P, Schoenmakers, E F P M, Twal, W O, Fryns, J P, Van De Ven, W J M. . The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. In Journal of medical genetics, 39, 98-104. doi:. https://pubmed.ncbi.nlm.nih.gov/11836357/
4. Tang, Rui, Jian, Yue, Hu, Zhimin, Yang, Zhihui, Tang, Mingxi. 2024. A Bioinformatics-Based Study on Methylation Alterations of the FBLN1 Gene in Hippocampal Tissue of Alzheimer's Disease Model DKO and DTG Mice. In International journal of molecular sciences, 25, . doi:10.3390/ijms25169036. https://pubmed.ncbi.nlm.nih.gov/39201719/
5. Xu, Gang, Geng, Xiang, Yang, Fan, Zhang, Haijiao. 2021. FBLN1 promotes chondrocyte proliferation by increasing phosphorylation of Smad2. In Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association, 27, 242-248. doi:10.1016/j.jos.2020.12.006. https://pubmed.ncbi.nlm.nih.gov/33610427/
6. Mattei, M G, Pan, T C, Zhang, R Z, Timpl, R, Chu, M L. . The fibulin-1 gene (FBLN1) is located on human chromosome 22 and on mouse chromosome 15. In Genomics, 22, 437-8. doi:. https://pubmed.ncbi.nlm.nih.gov/7806231/
7. Tian, Wenwen, Luo, Yongzhou, Tang, Yuhui, Xie, Xiaoming, Wei, Weidong. 2023. Novel Implication of the Basement Membrane for Breast Cancer Outcome and Immune Infiltration. In International journal of biological sciences, 19, 1645-1663. doi:10.7150/ijbs.81939. https://pubmed.ncbi.nlm.nih.gov/37056938/
8. Yang, Fang, Shi, Jing, Zhang, Liangyu, Wang, Hongyan, Li, Yang. 2021. Role of fibulin-1 gene promoter methylation in the carcinogenesis and development of tongue squamous cell carcinoma. In Oral surgery, oral medicine, oral pathology and oral radiology, 133, 432-440. doi:10.1016/j.oooo.2021.10.006. https://pubmed.ncbi.nlm.nih.gov/35153187/
9. Singh, U, Sun, T, Larsson, T, Kostka, G, Fundele, R H. 2005. Expression and functional analysis of fibulin-1 (Fbln1) during normal and abnormal placental development of the mouse. In Placenta, 27, 1014-21. doi:. https://pubmed.ncbi.nlm.nih.gov/16338003/