Ppp1cb-flox 基因敲除小鼠

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产品名称

Ppp1cb-flox 基因敲除小鼠

产品编号

S-CKO-17888

品系全称

C57BL/6JCya-Ppp1cbem1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-19046-Ppp1cb-B6J-VB

品系状态

使用本品系发表的文献需注明: Ppp1cb-flox 基因敲除小鼠 mice (Strain S-CKO-17888) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
cKO小鼠库模型
Hippo信号通路

基本信息

基因研究概述

质控标准

基因
基因全称
protein phosphatase 1 catalytic subunit beta
基因别称
1200010B19
染色体号
Chr 5 (Mouse)
转录本 ID
NCBI: NM_172707 | Ensembl: ENSMUST00000015100
修饰方式
条件性基因敲除
靶向范围
Exon 4~6
敲除长度
~3.2 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:104871Homozygous mutation of this gene results in lethality before weaning.
PPP1CB,即蛋白磷酸酶1催化亚基β同工型,是蛋白磷酸酶1(PP1)家族的一员。PP1是一种广泛存在于真核细胞中的丝氨酸/苏氨酸蛋白磷酸酶,负责调控细胞内多种信号传导途径和生物学过程,包括细胞周期、细胞凋亡、转录调控、肌肉收缩和神经元功能等。PPP1CB作为PP1的催化亚基,在细胞内广泛分布,并与其他调节亚基或底物相互作用,从而精确地调节磷酸化水平。

PPP1CB的突变与多种人类疾病相关。例如,PPP1CB基因的突变与Noonan综合征相关,这是一种常染色体显性遗传的发育障碍,表现为心脏缺陷、身材矮小、智力障碍等症状[1,3,5,6,9]。此外,PPP1CB基因的突变还与智力障碍相关,表现为中度或严重的智力障碍[4]。此外,PPP1CB基因的融合与胶质母细胞瘤的发生发展相关,例如PPP1CB-ALK融合蛋白在先天性胶质母细胞瘤中被发现[2]。PPP1CB还与肝癌的发生发展相关,其在肝癌中的表达水平与预后相关[7]。此外,PPP1CB还与肥胖的发生发展相关,其表达水平与肥胖相关[8]。

综上所述,PPP1CB作为蛋白磷酸酶1催化亚基β同工型,在细胞内广泛分布,并与其他调节亚基或底物相互作用,从而精确地调节磷酸化水平。PPP1CB的突变与多种人类疾病相关,包括Noonan综合征、智力障碍、胶质母细胞瘤、肝癌和肥胖等。PPP1CB的研究有助于深入理解细胞内信号传导途径和生物学过程的调控机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Umeki, Ikumi, Niihori, Tetsuya, Abe, Taiki, Kure, Shigeo, Aoki, Yoko. 2018. Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes. In Human genetics, 138, 21-35. doi:10.1007/s00439-018-1951-7. https://pubmed.ncbi.nlm.nih.gov/30368668/
2. Zhong, Yiming, Lin, Fumin, Xu, Feng, Storm, Phillip B, Li, Marilyn M. 2020. Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma. In Cancer genetics, 252-253, 37-42. doi:10.1016/j.cancergen.2020.12.005. https://pubmed.ncbi.nlm.nih.gov/33341678/
3. Bertola, Débora, Yamamoto, Guilherme, Buscarilli, Michelle, Passos-Bueno, Maria Rita, Kim, Chong. . The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype. In American journal of medical genetics. Part A, 173, 824-828. doi:10.1002/ajmg.a.38070. https://pubmed.ncbi.nlm.nih.gov/28211982/
4. Wang, Xianteng, Guo, Ting, Niu, Liman, Xu, Haibo, Huang, Weiren. 2024. Engineered targeting OIP5 sensitizes bladder cancer to chemotherapy resistance via TRIP12-PPP1CB-YBX1 axis. In Oncogene, 43, 2850-2867. doi:10.1038/s41388-024-03136-8. https://pubmed.ncbi.nlm.nih.gov/39155295/
5. Hamdan, Fadi F, Srour, Myriam, Capo-Chichi, Jose-Mario, Rouleau, Guy A, Michaud, Jacques L. 2014. De novo mutations in moderate or severe intellectual disability. In PLoS genetics, 10, e1004772. doi:10.1371/journal.pgen.1004772. https://pubmed.ncbi.nlm.nih.gov/25356899/
6. Huckstadt, Victoria, Chinton, Josefina, Gomez, Abel, Obregon, María Gabriela, Gravina, Luis Pablo. 2021. Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported. In American journal of medical genetics. Part A, 185, 1256-1260. doi:10.1002/ajmg.a.62089. https://pubmed.ncbi.nlm.nih.gov/33491856/
7. Chen, Yan, Chang, Li, Hu, Ling, Yarmohammadi, Hooman, Sun, Jun. 2024. Identification of a lactylation-related gene signature to characterize subtypes of hepatocellular carcinoma using bulk sequencing data. In Journal of gastrointestinal oncology, 15, 1636-1646. doi:10.21037/jgo-24-405. https://pubmed.ncbi.nlm.nih.gov/39279958/
8. Cheng, Zhi'ang, Liu, Binghong, Liu, Xiaoyong. 2024. Circadian gene signatures in the progression of obesity based on machine learning and Mendelian randomization analysis. In Frontiers in nutrition, 11, 1407265. doi:10.3389/fnut.2024.1407265. https://pubmed.ncbi.nlm.nih.gov/39351493/
9. He, Xuemei, Ma, Xiuli, Wang, Jing, Ma, Jing, Liu, Yun. 2022. Case report: Identification and clinical phenotypic analysis of novel mutation of the PPP1CB gene in NSLH2 syndrome. In Frontiers in behavioral neuroscience, 16, 987259. doi:10.3389/fnbeh.2022.987259. https://pubmed.ncbi.nlm.nih.gov/36160684/