Ewsr1-KO 基因敲除小鼠

下单100%中奖,最高可得千元京东卡
复苏/繁育服务
产品名称

Ewsr1-KO 基因敲除小鼠

产品编号

S-KO-01940

品系全称

C57BL/6JCya-Ewsr1em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-14030-Ewsr1-B6J-VA

品系状态

使用本品系发表的文献需注明: Ewsr1-KO 基因敲除小鼠 mice (Strain S-KO-01940) 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
Ewing sarcoma breakpoint region 1
基因别称
Ews,Ewsh
染色体号
Chr 11 (Mouse)
转录本 ID
NCBI: NM_007968 | Ensembl: ENSMUST00000079949
修饰方式
全身性基因敲除
靶向范围
Exon 4
敲除长度
~2.7 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:99960Homozygous mutant mice exhibit postnatal lethality, defective pre-B cell development, apoptosis of gametes and arrest in gamete maturation due to reduced meiotic recombination leading to infertility, kyphosis, lymphopenia, muscular atrophy, and hypersensitivity to ionizing radiation.
EWSR1,也称为Ewing肉瘤RNA结合蛋白1,是一种重要的RNA结合蛋白。它属于FET家族,该家族还包括Fused in Sarcoma (FUS)和TATA-box binding protein Associated Factor 15 (TAF15)。EWSR1在多种生物学过程中发挥作用,包括细胞分化和发育。EWSR1的表达受到多种因素的调控,包括细胞类型、发育阶段和环境信号。EWSR1的异常表达与多种疾病的发生和发展密切相关,包括癌症、神经退行性疾病和发育异常。

EWSR1的异常表达与多种癌症的发生和发展密切相关。EWSR1基因重排是多种软组织肿瘤的常见特征,包括Ewing肉瘤、滑膜肉瘤和婴儿纤维肉瘤等。这些肿瘤通常表现为小圆形细胞、梭形细胞、透明细胞或脂肪细胞肿瘤,或具有独特粘液样间质的肿瘤。EWSR1基因重排与这些肿瘤的发生和发展密切相关,可能导致细胞增殖、凋亡、分化和迁移的异常[1,2,3]。

除了在软组织肿瘤中的作用外,EWSR1基因重排还与多种骨肿瘤的发生和发展有关。例如,EWSR1-FLI1基因融合是Ewing肉瘤的特征性改变,这种基因融合导致了EWSR1蛋白与FLI1蛋白的融合,从而影响了细胞的增殖、分化和凋亡[4,5]。此外,EWSR1基因重排还与骨肉瘤、软骨肉瘤和骨巨细胞瘤等骨肿瘤的发生和发展有关[6,7,8]。

除了在肿瘤中的作用外,EWSR1基因重排还与多种神经退行性疾病的发生和发展有关。例如,EWSR1基因重排与肌萎缩侧索硬化症(ALS)和额颞叶痴呆(FTD)的发生和发展密切相关[9,10]。这些疾病通常表现为神经元退行性变和功能障碍,可能与EWSR1基因重排导致的细胞内蛋白质异常聚集和神经元死亡有关。

除了在肿瘤和神经退行性疾病中的作用外,EWSR1基因重排还与多种发育异常的发生和发展有关。例如,EWSR1基因重排与多种先天性畸形和发育迟缓的发生和发展有关[11,12]。这些疾病通常表现为身体和器官的异常形态和功能,可能与EWSR1基因重排导致的细胞分化和发育异常有关。

综上所述,EWSR1是一种重要的RNA结合蛋白,参与调控RNA的稳定性和功能,影响基因表达和生物学过程。EWSR1的异常表达与多种疾病的发生和发展密切相关,包括癌症、神经退行性疾病和发育异常。因此,深入研究EWSR1的生物学功能和疾病发生机制,对于理解疾病的病理生理机制和开发新的治疗方法具有重要意义[1-12]。

参考文献:
1. Thway, Khin, Fisher, Cyril. . Mesenchymal Tumors with EWSR1 Gene Rearrangements. In Surgical pathology clinics, 12, 165-190. doi:10.1016/j.path.2018.10.007. https://pubmed.ncbi.nlm.nih.gov/30709442/
2. Flucke, Uta, van Noesel, Max M, Siozopoulou, Vasiliki, van Gorp, Joost M, Hiemcke-Jiwa, Laura S. 2021. EWSR1-The Most Common Rearranged Gene in Soft Tissue Lesions, Which Also Occurs in Different Bone Lesions: An Updated Review. In Diagnostics (Basel, Switzerland), 11, . doi:10.3390/diagnostics11061093. https://pubmed.ncbi.nlm.nih.gov/34203801/
3. Suurmeijer, Albert J H, Cleven, Arjen H G, Antonescu, Cristina R, Billings, Steven D, Dermawan, Josephine K. 2023. Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue. In Histopathology, 83, 959-966. doi:10.1111/his.15044. https://pubmed.ncbi.nlm.nih.gov/37680034/
4. Schoolmeester, J Kenneth, Folpe, Andrew L, Nair, Asha A, Nucci, Marisa R, Kolin, David L. 2021. EWSR1-WT1 gene fusions in neoplasms other than desmoplastic small round cell tumor: a report of three unusual tumors involving the female genital tract and review of the literature. In Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 34, 1912-1920. doi:10.1038/s41379-021-00843-5. https://pubmed.ncbi.nlm.nih.gov/34099870/
5. Cohen, Jarish N, Sabnis, Amit J, Krings, Gregor, Horvai, Andrew E, Davis, Jessica L. 2018. EWSR1-NFATC2 gene fusion in a soft tissue tumor with epithelioid round cell morphology and abundant stroma: a case report and review of the literature. In Human pathology, 81, 281-290. doi:10.1016/j.humpath.2018.03.020. https://pubmed.ncbi.nlm.nih.gov/29626598/
6. Geng, Ziang, Gao, Wei, Cheng, Wen, Wu, Anhua. 2023. Primary Intracranial Ewing Sarcoma Invading the Superior Sagittal Sinus with EWSR1-FLI1 Gene Fusion and EWSR1 Gene Mutation: A Case Report and Literature Review. In World neurosurgery, 175, 1-10. doi:10.1016/j.wneu.2023.03.097. https://pubmed.ncbi.nlm.nih.gov/36990350/
7. Liu, Cuiwei, Liu, Yiwei, Zhao, Yanxia, Liu, Yang, Huang, Jing. 2020. Primary Intracranial Mesenchymal Tumor with EWSR1-CREM Gene Fusion: A Case Report and Literature Review. In World neurosurgery, 142, 318-324. doi:10.1016/j.wneu.2020.07.015. https://pubmed.ncbi.nlm.nih.gov/32668333/
8. Bode-Lesniewska, Beata, Fritz, Christine, Exner, Gerhard Ulrich, Wagner, Ulrich, Fuchs, Bruno. 2019. EWSR1-NFATC2 and FUS-NFATC2 Gene Fusion-Associated Mesenchymal Tumors: Clinicopathologic Correlation and Literature Review. In Sarcoma, 2019, 9386390. doi:10.1155/2019/9386390. https://pubmed.ncbi.nlm.nih.gov/31049020/
9. Zou, Ying S, Morsberger, Laura, Hardy, Melanie, Gocke, Christopher D, Gross, John M. 2023. Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas. In Genes, 14, . doi:10.3390/genes14061139. https://pubmed.ncbi.nlm.nih.gov/37372318/
10. Walker, Victoria, Jin, Dexter X, Millis, Sherri Z, Chen, James L, Seligson, Nathan D. 2023. Gene partners of the EWSR1 fusion may represent molecularly distinct entities. In Translational oncology, 38, 101795. doi:10.1016/j.tranon.2023.101795. https://pubmed.ncbi.nlm.nih.gov/37797367/