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C57BL/6JCya-Nprl2em1flox/Cya
Common Name:
Nprl2-flox
Product ID:
S-CKO-11924
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Nprl2-flox
Strain ID
CKOCMP-56032-Nprl2-B6J-VA
Gene Name
Nprl2
Product ID
S-CKO-11924
Gene Alias
2810446G01Rik; G21; NPR2L; Tusc4
Background
C57BL/6JCya
NCBI ID
56032
Modification
Conditional knockout
Chromosome
9
Phenotype
MGI:1914482
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Nprl2em1flox/Cya mice (Catalog S-CKO-11924) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000010201
NCBI RefSeq
NM_018879
Target Region
Exon 5~11
Size of Effective Region
~1.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Nprl2, also known as nitrogen permease regulator-like 2, is a critical component of the GATOR1 (Gap Activity TOward Rags 1) complex. GATOR1 functions as a negative regulator of the mammalian target of rapamycin complex 1 (mTORC1) kinase when intracellular amino acids are low. The mTORC1 signaling pathway is involved in various cellular processes such as growth, metabolism, and autophagy, highlighting the importance of Nprl2 in maintaining cellular homeostasis [1,2,3,4,5,6].

Loss-of-function studies have provided key insights into Nprl2's role. In mouse excitatory glutamatergic neurons, loss of Nprl2 expression causes seizures before death, increases mTORC1-dependent signal transduction, and alters amino acid homeostasis in the brain. It also reduces dendritic branching and increases the strength of electrically stimulated action potentials, consistent with elevated expression of epilepsy-linked voltage-gated sodium channels [1]. In hepatocellular carcinoma, down-regulation of Nprl2 significantly increases tumor proliferation, migration, and colony formation in vitro and in vivo, via mTOR pathway activation and autophagy suppression [2].

In conclusion, Nprl2 is essential for regulating mTORC1 signaling, which in turn impacts multiple cellular functions. Gene-knockout or conditional-knockout mouse models have been instrumental in revealing its role in diseases such as epilepsy and cancer. Understanding Nprl2's function provides potential therapeutic targets for these conditions [1,2].

References:
1. Hui, Jeremy B, Silva, Jose Cesar Hernandez, Pelaez, Mari Carmen, Sephton, Chantelle F, Dutchak, Paul A. 2022. NPRL2 Inhibition of mTORC1 Controls Sodium Channel Expression and Brain Amino Acid Homeostasis. In eNeuro, 9, . doi:10.1523/ENEURO.0317-21.2022. https://pubmed.ncbi.nlm.nih.gov/35165201/
2. Wang, Ya-Chin, Tsai, Ming-Chao, Chen, Yaw-Sen, Yu, Ming-Lung, Lin, Chih-Wen. 2022. NPRL2 down-regulation facilitates the growth of hepatocellular carcinoma via the mTOR pathway and autophagy suppression. In Hepatology communications, 6, 3563-3577. doi:10.1002/hep4.2019. https://pubmed.ncbi.nlm.nih.gov/36321403/
3. Chen, Zhixiong, Jiang, Qilong, Zhu, Pingyu, Jiang, Li, Tang, Wei. 2018. NPRL2 enhances autophagy and the resistance to Everolimus in castration-resistant prostate cancer. In The Prostate, 79, 44-53. doi:10.1002/pros.23709. https://pubmed.ncbi.nlm.nih.gov/30178500/
4. Zhang, Jia, Shen, Yajun, Yang, Zuozhen, Chen, Wanlin, Gan, Jing. 2021. A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review. In Journal of human genetics, 67, 79-85. doi:10.1038/s10038-021-00969-z. https://pubmed.ncbi.nlm.nih.gov/34376795/
5. Zhang, Hongwei, Deng, Jie, Gao, Zaifen, Zhao, Hongyang, Fang, Fang. 2023. Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review. In Seizure, 116, 100-106. doi:10.1016/j.seizure.2023.09.003. https://pubmed.ncbi.nlm.nih.gov/37741786/
6. Chuang, Jing-Yuan, Kuo, Hsiao-Hui, Wang, Pei-Han, Su, Chih-Jou, Yih, Ling-Huei. 2024. NPRL2 is required for proliferation of oncogenic Ras-transformed bronchial epithelial cells. In Cell division, 19, 22. doi:10.1186/s13008-024-00126-w. https://pubmed.ncbi.nlm.nih.gov/38915098/
Quality Control Standard
Sperm Test

Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.

Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.

Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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