Ftsj1-flox 基因敲除小鼠

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产品名称

Ftsj1-flox 基因敲除小鼠

产品编号

S-CKO-11840

品系全称

C57BL/6JCya-Ftsj1em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-54632-Ftsj1-B6J-VA

品系状态

使用本品系发表的文献需注明: Ftsj1-flox 基因敲除小鼠 mice (Strain S-CKO-11840) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
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小计:
询价
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
FtsJ RNA 2'-O-methyltransferase 1
基因别称
Ftsj,Ftsjl,Sfc12
染色体号
Chr X (Mouse)
转录本 ID
NCBI: NM_133991 | Ensembl: ENSMUST00000033513
修饰方式
条件性基因敲除
靶向范围
Exon 5
敲除长度
~1.3 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:1859648Males hemizygous for a null allele exhibit immature synaptic morphology and aberrant synaptic plasticity, impaired fear memory retrieval, impaired spatial learning and increased anxiety-like behavior.
FTSJ1,也称为FtsJ RNA 2'-O-甲基转移酶1,是一种重要的tRNA修饰酶,负责在tRNA的反密码环区域进行2'-O-甲基化修饰。tRNA的2'-O-甲基化修饰对于tRNA的正确折叠和功能发挥至关重要,它能够影响tRNA的稳定性和与核糖体的相互作用,从而影响蛋白质合成的效率和准确性。FTSJ1的突变与X连锁智力障碍(XLID)有关,这是一种常见的遗传性疾病,表现为智力低下和学习障碍。此外,FTSJ1还与非小细胞肺癌(NSCLC)的发生和发展有关,FTSJ1的表达水平与NSCLC细胞的增殖、迁移和凋亡相关[1][2][3][4][5][6][7][8]。

FTSJ1的突变可能导致tRNA的2'-O-甲基化修饰缺陷,进而影响tRNA的稳定性和与核糖体的相互作用,导致蛋白质合成的效率和准确性降低,从而影响神经系统的发育和功能。此外,FTSJ1的表达水平还与NSCLC的发生和发展有关,FTSJ1可能通过影响tRNA的2'-O-甲基化修饰和基因表达来调控NSCLC细胞的增殖、迁移和凋亡。

FTSJ1的研究有助于深入理解tRNA修饰的生物学功能和疾病发生机制,为智力障碍和肺癌的治疗和预防提供新的思路和策略。未来的研究可以进一步探讨FTSJ1在tRNA修饰和基因表达调控中的具体机制,以及FTSJ1在智力障碍和肺癌发生和发展中的具体作用,为疾病的治疗和预防提供新的靶点和策略。

参考文献:
1. Li, Jing, Wang, Yan-Nan, Xu, Bei-Si, Wang, En-Duo, Liu, Ru-Juan. 2020. Intellectual disability-associated gene ftsj1 is responsible for 2'-O-methylation of specific tRNAs. In EMBO reports, 21, e50095. doi:10.15252/embr.202050095. https://pubmed.ncbi.nlm.nih.gov/32558197/
2. Jensen, Lars R, Garrett, Lillian, Hölter, Sabine M, Ropers, Hans-Hilger, Kuss, Andreas W. 2018. A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. In Biochimica et biophysica acta. Molecular basis of disease, 1865, 2083-2093. doi:10.1016/j.bbadis.2018.12.011. https://pubmed.ncbi.nlm.nih.gov/30557699/
3. Nagayoshi, Y, Chujo, T, Hirata, S, Tomizawa, K, Wei, F-Y. 2021. Loss of Ftsj1 perturbs codon-specific translation efficiency in the brain and is associated with X-linked intellectual disability. In Science advances, 7, . doi:10.1126/sciadv.abf3072. https://pubmed.ncbi.nlm.nih.gov/33771871/
4. Freude, Kristine, Hoffmann, Kirsten, Jensen, Lars-Riff, Kalscheuer, Vera M, Ropers, Hans-Hilger. 2004. Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. In American journal of human genetics, 75, 305-9. doi:. https://pubmed.ncbi.nlm.nih.gov/15162322/
5. Brazane, Mira, Dimitrova, Dilyana G, Pigeon, Julien, Motorin, Yuri, Carré, Clément. 2023. The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance. In Life science alliance, 6, . doi:10.26508/lsa.202201877. https://pubmed.ncbi.nlm.nih.gov/36720500/
6. Takano, Kyoko, Nakagawa, Eiji, Inoue, Ken, Kure, Shigeo, Goto, Yu-ichi. . A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. In American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, 147B, 479-84. doi:. https://pubmed.ncbi.nlm.nih.gov/18081026/
7. Carollo, Pietro Salvatore, Tutone, Marco, Culletta, Giulia, Almerico, Anna Maria, Lentini, Laura. 2023. Investigating the Inhibition of FTSJ1, a Tryptophan tRNA-Specific 2'-O-Methyltransferase by NV TRIDs, as a Mechanism of Readthrough in Nonsense Mutated CFTR. In International journal of molecular sciences, 24, . doi:10.3390/ijms24119609. https://pubmed.ncbi.nlm.nih.gov/37298560/
8. He, Qihan, Yang, Lin, Gao, Kaiping, Chen, Yuchen, Zhai, Rihong. 2020. FTSJ1 regulates tRNA 2'-O-methyladenosine modification and suppresses the malignancy of NSCLC via inhibiting DRAM1 expression. In Cell death & disease, 11, 348. doi:10.1038/s41419-020-2525-x. https://pubmed.ncbi.nlm.nih.gov/32393790/