Tcf20-flox 基因敲除小鼠

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产品名称

Tcf20-flox 基因敲除小鼠

产品编号

S-CKO-05797

品系全称

C57BL/6JCya-Tcf20em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-21411-Tcf20-B6J-VA

品系状态

使用本品系发表的文献需注明: Tcf20-flox 基因敲除小鼠 mice (Strain S-CKO-05797) 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
transcription factor 20
基因别称
2810438H08Rik,SPBP,mKIAA0292
染色体号
Chr 15 (Mouse)
转录本 ID
NCBI: NM_013836 | Ensembl: ENSMUST00000048966
修饰方式
条件性基因敲除
靶向范围
Exon 2
敲除长度
~6.4 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:108399Mice homozygous for a null allele exhibit 80% lethality by P14, growth retardation, impaired neurogenesis, and decreased vocalization. Heterozygous mice show repetitive behaviors, social interaction defects, impaired working memory, and increased anxiety and vocalization.
Tcf20,也称为转录共激活因子20,是一种重要的转录共激活因子,编码一个核染色质结合蛋白,参与调节基因表达。Tcf20在神经发生、脑发育和多种生物学过程中发挥重要作用。Tcf20的基因变异或缺失与多种神经发育障碍和疾病相关,包括智力障碍、自闭症谱系障碍、运动障碍和睡眠障碍等[2,6,7]。

研究发现,Tcf20基因的变异或缺失会导致神经发生受损,影响神经元数量和脑功能。例如,TCF20基因的变异与智力障碍、自闭症谱系障碍等神经发育障碍相关[2,6]。此外,Tcf20基因的缺失还会导致肝脏纤维化增加和线粒体代谢异常,影响肝脏功能和代谢过程[5]。

进一步研究发现,Tcf20基因编码的蛋白质与MeCP2蛋白形成复合物,参与调节基因表达和脑功能。MeCP2蛋白与Rett综合征和MECP2复制综合征等疾病相关,而Tcf20基因的变异或缺失会影响MeCP2蛋白的功能,导致神经发育障碍和疾病的发生[4]。

综上所述,Tcf20基因在神经发生、脑发育和多种生物学过程中发挥重要作用,其基因变异或缺失与多种神经发育障碍和疾病相关。Tcf20基因的研究有助于深入理解神经发育障碍和疾病的发病机制,为疾病的治疗和预防提供新的思路和策略[1,3,8]。

参考文献:
1. . 2017. Prevalence and architecture of de novo mutations in developmental disorders. In Nature, 542, 433-438. doi:10.1038/nature21062. https://pubmed.ncbi.nlm.nih.gov/28135719/
2. Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Lupski, James R, Liu, Pengfei. 2019. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. In Genome medicine, 11, 12. doi:10.1186/s13073-019-0623-0. https://pubmed.ncbi.nlm.nih.gov/30819258/
3. Lévy, Jonathan, Cogan, Guillaume, Maruani, Anna, Verloes, Alain, Tabet, Anne-Claude. 2021. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. In Clinical genetics, 101, 364-370. doi:10.1111/cge.14099. https://pubmed.ncbi.nlm.nih.gov/34904221/
4. Zhou, Jian, Hamdan, Hamdan, Yalamanchili, Hari Krishna, Rasband, Matthew N, Zoghbi, Huda Y. . Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. In Proceedings of the National Academy of Sciences of the United States of America, 119, . doi:10.1073/pnas.2119078119. https://pubmed.ncbi.nlm.nih.gov/35074918/
5. Córdoba-Jover, Bernat, Ribera, Jordi, Portolés, Irene, Jiménez, Wladimiro, Morales-Ruiz, Manuel. 2023. Tcf20 deficiency is associated with increased liver fibrogenesis and alterations in mitochondrial metabolism in mice and humans. In Liver international : official journal of the International Association for the Study of the Liver, 43, 1822-1836. doi:10.1111/liv.15640. https://pubmed.ncbi.nlm.nih.gov/37312667/
6. Feng, Chao, Zhao, Jinyue, Ji, Fen, Chen, Yihui, Jiao, Jianwei. 2020. TCF20 dysfunction leads to cortical neurogenesis defects and autistic-like behaviors in mice. In EMBO reports, 21, e49239. doi:10.15252/embr.201949239. https://pubmed.ncbi.nlm.nih.gov/32510763/
7. Huang, Si, Xu, Jiaxin, Li, Yiyang, Xin, Jing, Ma, Guoda. 2023. A syndrome featuring developmental disorder of the nervous system induced by a novel mutation in the TCF20 gene, rarely concurrent immune disorders: a case report. In Frontiers in genetics, 14, 1192668. doi:10.3389/fgene.2023.1192668. https://pubmed.ncbi.nlm.nih.gov/37303953/
8. Shah, Snehal, Sarasua, Sara M, Boccuto, Luigi, Dean, Brian C, Wang, Liangjiang. 2023. Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia. In Genes, 14, . doi:10.3390/genes14111998. https://pubmed.ncbi.nlm.nih.gov/38002941/