C57BL/6JCya-Gnb1lem1flox/Cya
Common Name:
Gnb1l-flox
Product ID:
S-CKO-02260
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Gnb1l-flox
Strain ID
CKOCMP-13972-Gnb1l-B6J-VA
Gene Name
Product ID
S-CKO-02260
Gene Alias
ESTM55; Gm16314; Me49f07; Wdr14; Wdvcf
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
16
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gnb1lem1flox/Cya mice (Catalog S-CKO-02260) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000167778
NCBI RefSeq
NM_001285493.1
Target Region
Exon 5~6
Size of Effective Region
~1.8 kb
Detailed Document
Overview of Gene Research
GNB1L, which encodes a G-protein beta-subunit-like polypeptide, is located in the critical region for DiGeorge syndrome on 22q11 [3]. It functions as a key regulator in DNA damage response (DDR) signaling pathways, acting as a co-chaperone specifically regulating phosphatidylinositol 3-kinase-related kinases (PIKKs) such as ATR, thus being crucial for maintaining genome stability [1,2].
In mouse models, hemizygous deletion of Gnb1l can cause deficits in pre-pulse inhibition, a sensory-motor gating defect associated with schizophrenia [5]. Also, heterozygous Gnb1l knockout mice show impaired prepulse inhibition, suggesting GNB1L's role in increasing the risk of schizophrenia [6]. In addition, a 31-bp indel in the 5' UTR region of chicken GNB1L significantly affects body weight and carcass traits, showing its importance in growth-related phenotypes [4].
In conclusion, GNB1L is essential for DDR signaling and PIKK biogenesis, and its dysregulation is associated with diseases like schizophrenia. Mouse models, especially Gnb1l knockout models, have been instrumental in revealing its role in psychiatric-related phenotypes, highlighting its significance in understanding the pathogenesis of such disorders.
References：
1. Huang, Min, Yao, Fuwen, Nie, Litong, Hart, Traver, Chen, Junjie. . FACS-based genome-wide CRISPR screens define key regulators of DNA damage signaling pathways. In Molecular cell, 83, 2810-2828.e6. doi:10.1016/j.molcel.2023.07.004. https://pubmed.ncbi.nlm.nih.gov/37541219/
2. Zhao, Yichao, Tabet, Daniel, Rubio Contreras, Diana, Roth, Frederick P, Durocher, Daniel. 2023. Genome-scale mapping of DNA damage suppressors through phenotypic CRISPR-Cas9 screens. In Molecular cell, 83, 2792-2809.e9. doi:10.1016/j.molcel.2023.06.025. https://pubmed.ncbi.nlm.nih.gov/37478847/
3. Gong, L, Liu, M, Jen, J, Yeh, E T. . GNB1L, a gene deleted in the critical region for DiGeorge syndrome on 22q11, encodes a G-protein beta-subunit-like polypeptide. In Biochimica et biophysica acta, 1494, 185-8. doi:. https://pubmed.ncbi.nlm.nih.gov/11072084/
4. Ren, Tuanhui, Yang, Ying, Lin, Wujian, Luo, Wen, Zhang, Xiquan. 2020. A 31-bp indel in the 5' UTR region of GNB1L is significantly associated with chicken body weight and carcass traits. In BMC genetics, 21, 91. doi:10.1186/s12863-020-00900-z. https://pubmed.ncbi.nlm.nih.gov/32847500/
5. Williams, Nigel M, Glaser, Beate, Norton, Nadine, O'Donovan, Michael C, Owen, Michael J. 2007. Strong evidence that GNB1L is associated with schizophrenia. In Human molecular genetics, 17, 555-66. doi:. https://pubmed.ncbi.nlm.nih.gov/18003636/
6. Ishiguro, Hiroki, Koga, Minori, Horiuchi, Yasue, Nawa, Hiroyuki, Arinami, Tadao. 2008. Supportive evidence for reduced expression of GNB1L in schizophrenia. In Schizophrenia bulletin, 36, 756-65. doi:10.1093/schbul/sbn160. https://pubmed.ncbi.nlm.nih.gov/19011233/
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