Slc11a1-flox 基因敲除小鼠

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产品名称

Slc11a1-flox 基因敲除小鼠

产品编号

S-CKO-18063

品系全称

C57BL/6JCya-Slc11a1em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-18173-Slc11a1-B6J-VB

品系状态

使用本品系发表的文献需注明: Slc11a1-flox 基因敲除小鼠 mice (Strain S-CKO-18063) 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
solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1
基因别称
Bcg,Ity,Ity1,Lsh,Nramp,Nramp1,ity
染色体号
Chr 1 (Mouse)
转录本 ID
NCBI: NM_013612 | Ensembl: ENSMUST00000027368
修饰方式
条件性基因敲除
靶向范围
Exon 2~4
敲除长度
~2.0 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:1345275Mutations in this gene are associated with susceptibility to infection with pathogens, including Myobacterium, Salmonella and Leishmania. Depending on the mutation, mutants may exhibit either increased or decreased susceptibility to infection.
Slc11a1,也称为自然抗性相关巨噬细胞蛋白1(NRAMP1),是一种重要的二价金属离子转运蛋白,由SLC11A1基因编码。该基因位于人染色体2q35区域,编码一个含有多个跨膜结构域的蛋白,主要负责细胞内二价金属离子如铁、锰、锌等的转运。Slc11a1在巨噬细胞和树突状细胞等免疫细胞中表达丰富,参与调节免疫细胞的功能,尤其是在感染和炎症反应中发挥重要作用。

Slc11a1基因的多态性与其表达和功能密切相关。研究表明,Slc11a1基因的某些多态性位点与多种疾病的发生发展相关,包括炎症性肠病、结核病、利什曼病、川崎病、关节炎等。例如,研究发现Slc11a1基因的R和S等位基因在DSS诱导的结肠炎中具有不同的影响,S等位基因与结肠炎的易感性相关[1]。此外,Slc11a1基因的D543N多态性与结核病的易感性相关,尤其是在亚洲人群中[2,7]。利什曼病的易感性也与Slc11a1基因的多态性相关,其中rs17235409和rs17235416位点与皮肤利什曼病(CL)和内脏利什曼病(VL)的易感性相关[3]。

川崎病是一种急性全身性血管炎,研究发现Slc11a1基因的rs77624405多态性与川崎病的易感性相关,并且该基因与卡介苗接种部位的红斑相关[4]。关节炎的易感性也与Slc11a1基因的多态性相关,其中S等位基因与关节炎的严重程度和易感性相关[5]。

Slc11a1基因的功能和表达调控机制一直是研究的热点。研究发现,Slc11a1基因的5'调控区包含重要的转录因子结合位点,如NF-1和NF-1/L,这些位点可能参与调节Slc11a1基因的表达[6]。此外,维生素A缺乏会降低Slc11a1的表达,从而影响巨噬细胞对沙门氏菌的控制[8]。

综上所述,Slc11a1基因在免疫系统和炎症反应中发挥着重要作用。Slc11a1基因的多态性与多种疾病的易感性相关,包括炎症性肠病、结核病、利什曼病、川崎病、关节炎等。Slc11a1基因的表达和功能受到多种因素的调控,包括基因多态性、维生素A缺乏等。深入研究Slc11a1基因的功能和表达调控机制,有助于揭示其在疾病发生发展中的作用,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. de Andrade, Stephane Tereza Queiroz, Guidugli, Tamíris Isabela, Borrego, Andrea, Massa, Solange, Ribeiro, Orlando Garcia. 2023. Slc11a1 gene polymorphism influences dextran sulfate sodium (DSS)-induced colitis in a murine model of acute inflammation. In Genes and immunity, 24, 71-80. doi:10.1038/s41435-023-00199-7. https://pubmed.ncbi.nlm.nih.gov/36792680/
2. Meilang, Q, Zhang, Y, Zhang, J, Huang, J, Fan, H. . Polymorphisms in the SLC11A1 gene and tuberculosis risk: a meta-analysis update. In The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease, 16, 437-46. doi:10.5588/ijtld.10.0743. https://pubmed.ncbi.nlm.nih.gov/22326178/
3. Braliou, Georgia G, Kontou, Panagiota I, Boleti, Haralabia, Bagos, Pantelis G. 2019. Susceptibility to leishmaniasis is affected by host SLC11A1 gene polymorphisms: a systematic review and meta-analysis. In Parasitology research, 118, 2329-2342. doi:10.1007/s00436-019-06374-y. https://pubmed.ncbi.nlm.nih.gov/31230160/
4. Kim, Kyu Yeun, Bae, Yoon Sun, Ji, Woohyuk, Kim, Ho Seong, Kim, Dong Soo. . ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease. In Yonsei medical journal, 59, 119-127. doi:10.3349/ymj.2018.59.1.119. https://pubmed.ncbi.nlm.nih.gov/29214786/
5. Correa, Mara A, Canhamero, Tatiane, Borrego, Andrea, Ibañez, Olga M, De Franco, Marcelo. 2017. Slc11a1 (Nramp-1) gene modulates immune-inflammation genes in macrophages during pristane-induced arthritis in mice. In Inflammation research : official journal of the European Histamine Research Society ... [et al.], 66, 969-980. doi:10.1007/s00011-017-1077-8. https://pubmed.ncbi.nlm.nih.gov/28669029/
6. Chong, Yuqing, Wang, Liping, Wang, Bo, Deng, Weidong, Xi, Dongmei. 2023. Molecular Cloning and Functional Characterization of the 5' Regulatory Region of the SLC11A1 Gene from Yaks. In Animals : an open access journal from MDPI, 13, . doi:10.3390/ani13233615. https://pubmed.ncbi.nlm.nih.gov/38066966/
7. Li, XiangWei, Yang, Yu, Zhou, Feng, Jin, Qi, Gao, Lei. 2011. SLC11A1 (NRAMP1) polymorphisms and tuberculosis susceptibility: updated systematic review and meta-analysis. In PloS one, 6, e15831. doi:10.1371/journal.pone.0015831. https://pubmed.ncbi.nlm.nih.gov/21283567/
8. Lokken-Toyli, Kristen L, Diaz-Ochoa, Vladimir E, Camacho, Lizbeth, Stephensen, Charles B, Tsolis, Renée M. 2024. Vitamin A deficiency impairs neutrophil-mediated control of Salmonella via SLC11A1 in mice. In Nature microbiology, 9, 727-736. doi:10.1038/s41564-024-01613-0. https://pubmed.ncbi.nlm.nih.gov/38374245/