Pou3f2-KO 基因敲除小鼠

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产品名称

Pou3f2-KO 基因敲除小鼠

产品编号

S-KO-18250

品系全称

C57BL/6JCya-Pou3f2em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-18992-Pou3f2-B6J-VA

品系状态

使用本品系发表的文献需注明: Pou3f2-KO 基因敲除小鼠 mice (Strain S-KO-18250) 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
POU domain, class 3, transcription factor 2
基因别称
9430075J19Rik,A230098E07Rik,Brn-2,Brn2,OTF-7,Otf7,oct-7
染色体号
Chr 4 (Mouse)
转录本 ID
NCBI: NM_008899 | Ensembl: ENSMUST00000178174
修饰方式
全身性基因敲除
靶向范围
Exon 1
敲除长度
~3.7 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:101895Homozygous mutation of this gene results in lethality by 10 days of age. Mutant animals are growth retarded, have hyperkeratotic, flaky skin, and exhibit loss of the posterior pituitary and disruption of late endocrine hypothalamic development.
Pou3f2,也称为Brn2,是一种编码神经转录因子的基因,属于POU家族。POU转录因子是一类重要的转录调节因子,参与调控神经发育、神经分化、神经元功能和神经系统的稳态维持等生物学过程。Pou3f2基因的表达主要在神经系统,特别是在神经元和神经胶质细胞中。研究表明,Pou3f2在神经系统的发育和功能中起着关键作用,与多种神经系统疾病的发生发展密切相关。

研究表明,Pou3f2基因的变异与多种神经系统疾病相关,如神经发育迟缓、自闭症谱系障碍、精神分裂症、双相情感障碍等。例如,一项研究发现,Pou3f2基因的单等位基因截断变异导致神经发育迟缓和肥胖,证实了该基因在6q16.1缺失中的候选基因地位[1]。另一项研究指出,Pou3f2基因的转录因子功能在脑组织中调节基因共表达网络,包括与精神分裂症和双相情感障碍相关的基因[2]。此外,还有研究发现Pou3f2基因在神经内分泌前列腺癌、胶质母细胞瘤、Ewing肉瘤等恶性肿瘤的发生发展中发挥重要作用[3,4,5,6,7]。

Pou3f2基因的表达和功能还与母性行为相关。研究发现,Pou3f2基因敲除小鼠表现出母性行为的缺陷,如幼崽检索行为和探索行为的受损[8]。此外,Pou3f2基因与TRIM8基因共同调节神经发育和突触功能,可能参与精神分裂症的发病机制[9]。

综上所述,Pou3f2基因在神经发育、神经分化、神经元功能、神经系统疾病、恶性肿瘤和母性行为等方面发挥着重要作用。研究Pou3f2基因的表达和功能对于理解神经系统疾病的发病机制、开发新的治疗方法和改善母性行为具有重要意义。

参考文献:
1. Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Sayer, John A, Halbritter, Jan. 2023. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions. In American journal of human genetics, 110, 998-1007. doi:10.1016/j.ajhg.2023.04.010. https://pubmed.ncbi.nlm.nih.gov/37207645/
2. Chen, Chao, Meng, Qingtuan, Xia, Yan, White, Kevin P, Liu, Chunyu. 2018. The transcription factor POU3F2 regulates a gene coexpression network in brain tissue from patients with psychiatric disorders. In Science translational medicine, 10, . doi:10.1126/scitranslmed.aat8178. https://pubmed.ncbi.nlm.nih.gov/30545964/
3. Wang, Ziwei, Wang, Tao, Hong, Danni, Huang, Jialiang, Li, Jing. 2022. Single-cell transcriptional regulation and genetic evolution of neuroendocrine prostate cancer. In iScience, 25, 104576. doi:10.1016/j.isci.2022.104576. https://pubmed.ncbi.nlm.nih.gov/35789834/
4. Suvà, Mario L, Rheinbay, Esther, Gillespie, Shawn M, Louis, David N, Bernstein, Bradley E. 2014. Reconstructing and reprogramming the tumor-propagating potential of glioblastoma stem-like cells. In Cell, 157, 580-94. doi:10.1016/j.cell.2014.02.030. https://pubmed.ncbi.nlm.nih.gov/24726434/
5. Lin, Yi-Mei J, Hsin, I-Lun, Sun, H Sunny, Shen, Yi-Ting, Wu, Hung-Ming. 2018. NTF3 Is a Novel Target Gene of the Transcription Factor POU3F2 and Is Required for Neuronal Differentiation. In Molecular neurobiology, 55, 8403-8413. doi:10.1007/s12035-018-0995-y. https://pubmed.ncbi.nlm.nih.gov/29549646/
6. Adane, Biniam, Alexe, Gabriela, Seong, Bo Kyung A, Crompton, Brian D, Stegmaier, Kimberly. . STAG2 loss rewires oncogenic and developmental programs to promote metastasis in Ewing sarcoma. In Cancer cell, 39, 827-844.e10. doi:10.1016/j.ccell.2021.05.007. https://pubmed.ncbi.nlm.nih.gov/34129824/
7. Zhang, Zeda, Zhou, Chuanli, Li, Xiaoling, Sawyers, Charles L, Mu, Ping. 2020. Loss of CHD1 Promotes Heterogeneous Mechanisms of Resistance to AR-Targeted Therapy via Chromatin Dysregulation. In Cancer cell, 37, 584-598.e11. doi:10.1016/j.ccell.2020.03.001. https://pubmed.ncbi.nlm.nih.gov/32220301/
8. Nasu, Makoto, Abe, Yukiko, Matsushima, Aya, Kozuki, Naoyuki, Ueda, Shintaroh. 2022. Deficient maternal behavior in multiparous Pou3f2⊿ mice is associated with an impaired exploratory activity. In Behavioural brain research, 427, 113846. doi:10.1016/j.bbr.2022.113846. https://pubmed.ncbi.nlm.nih.gov/35306097/
9. Vierbuchen, Thomas, Ostermeier, Austin, Pang, Zhiping P, Südhof, Thomas C, Wernig, Marius. 2010. Direct conversion of fibroblasts to functional neurons by defined factors. In Nature, 463, 1035-41. doi:10.1038/nature08797. https://pubmed.ncbi.nlm.nih.gov/20107439/