C57BL/6JCya-Gars1em1flox/Cya
Common Name:
Gars1-flox
Product ID:
S-CKO-19177
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Gars1-flox
Strain ID
CKOCMP-353172-Gars1-B6J-VB
Gene Name
Product ID
S-CKO-19177
Gene Alias
GENA202; Gars; Gena201; Nmf249; Sgrp23
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
6
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Gars1em1flox/Cya mice (Catalog S-CKO-19177) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000003572
NCBI RefSeq
NM_180678
Target Region
Exon 2~3
Size of Effective Region
~2.8 kb
Detailed Document
Overview of Gene Research
GARS1, encoding glycyl-tRNA synthetase, is a key gene in the aminoacyl-tRNA synthetase family, playing a crucial role in protein synthesis by catalyzing the attachment of glycine to its cognate tRNA [3]. It is associated with tRNA-related pathways [1].
Pathogenic variants of GARS1 can cause various neuromuscular disorders. For example, in a cross-sectional study of 12 patients with the c.794C>T (p.Ser265Phe) missense pathogenic variant in GARS1, it was found that the patients presented with a distal hereditary motor neuropathy (dHMN) phenotype with "split hand" and sensory disturbances [2]. Functional studies of two novel missense variants modifying amino-acid position 336 in the catalytic domain of GARS1, identified in patients with infantile spinal muscular atrophy (iSMA) and Charcot-Marie-Tooth disease type 2D (CMT2D), suggested a loss-of-function effect [4]. Also, a novel GARS1 mutation (c.997G>C, p.E333Q) was identified in a Chinese family with infantile-onset CMT2D/dSMA-V, expanding the mutational spectrum of GARS1-related disorders [5]. In addition, GARS1 is highly expressed across cancers, especially in bladder urothelial carcinoma (BLCA), where its overexpression promotes cell proliferation, metastasis, and inhibits apoptosis, and is correlated with poor survival and specific immune infiltration [1,3].
In conclusion, GARS1 is essential for protein synthesis through its role in glycyl-tRNA formation. Its dysfunction, caused by pathogenic variants, is linked to neuromuscular disorders such as CMT2D, dHMN, and iSMA. In the cancer context, GARS1 may serve as a prognostic and immunological biomarker, especially in BLCA. Understanding GARS1 through genetic studies in patients provides insights into disease mechanisms and potential therapeutic targets for these neuromuscular and cancer diseases.
References:
1. Liu, Weihui, Wei, Chengcheng, He, Qingliu, Guo, Yihong, Xue, Xueyi. 2024. Multiple omics integrative analysis identifies GARS1 as a novel prognostic and immunological biomarker: from pan-cancer to bladder cancer. In Scientific reports, 14, 19025. doi:10.1038/s41598-024-70041-1. https://pubmed.ncbi.nlm.nih.gov/39152248/
2. Jiménez-Jiménez, Jesús, Navarrete, Irene, Azorín, Inmaculada, Sevilla, Teresa, Sivera, Rafael. 2024. Insights into phenotypic variability caused by GARS1 pathogenic variants. In European journal of neurology, 31, e16416. doi:10.1111/ene.16416. https://pubmed.ncbi.nlm.nih.gov/39051710/
3. Nie, Jianqiang, Liu, Taobin, Mao, Taotao, Liu, Xiaoqiang, Fu, Bin. 2023. Transcriptome sequencing and single-cell sequencing analysis identify GARS1 as a potential prognostic and immunotherapeutic biomarker for multiple cancers, including bladder cancer. In Frontiers in immunology, 14, 1169588. doi:10.3389/fimmu.2023.1169588. https://pubmed.ncbi.nlm.nih.gov/37404826/
4. Meyer, Alayne P, Forrest, Megan E, Nicolau, Stefan, Antonellis, Anthony, Abreu, Nicolas J. 2022. Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes. In Human mutation, 43, 869-876. doi:10.1002/humu.24372. https://pubmed.ncbi.nlm.nih.gov/35332613/
5. Huang, Yufeng, Bi, Bo, Zhao, Peiwei, Liu, Jie, He, Xuelian. 2021. Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene. In Molecular genetics & genomic medicine, 10, e1846. doi:10.1002/mgg3.1846. https://pubmed.ncbi.nlm.nih.gov/34898052/
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