C57BL/6JCya-Qars1em1flox/Cya
Common Name:
Qars1-flox
Product ID:
S-CKO-17291
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Qars1-flox
Strain ID
CKOCMP-97541-Qars1-B6J-VA
Gene Name
Product ID
S-CKO-17291
Gene Alias
1110018N24Rik; 1200016L19Rik; GLNRS; Qars
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Qars1em1flox/Cya mice (Catalog S-CKO-17291) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000006838
NCBI RefSeq
NM_133794
Target Region
Exon 6~7
Size of Effective Region
~0.8 kb
Detailed Document
Overview of Gene Research
Qars1, encoding human glutaminyl-tRNA synthetase, is responsible for the ligation of glutamine to its cognate tRNAs, which is crucial for protein synthesis. It is also a component of the multi-tRNA synthetase complex (MSC) in humans [5].
Mutations in Qars1 have been associated with severe phenotypes. Reported cases show that individuals with Qars1 gene variations often present a syndrome characterized by microcephaly, cerebral atrophy, intractable early-onset epileptic encephalopathy, global developmental retardation, and severe muscle hypotonia. Epilepsy caused by Qars1 variants is usually drug-resistant. For example, in a study of three Chinese patients, all had compound heterozygous variations in Qars1 and presented with the above-mentioned symptoms, and most had poor seizure control with common anti-epilepsy drugs [1]. Another case of a 4-year-old girl with novel Qars1 variants showed a milder neurological phenotype, but still had orofacial dyskinesia, hand stereotypies, and focal seizures [2]. A pair of siblings with a homozygous missense variation in Qars1 gene exon 2 had severe global developmental delay, microcephaly, and refractory epilepsy [3]. A 6-year-old patient with compound heterozygous Qars1 variants had childhood-onset focal epilepsy and an episode of steroid-responsive acute para-infectious encephalopathy [4].
In conclusion, Qars1 is essential for protein synthesis through its role in glutaminyl-tRNA ligation. Research on Qars1-related genetic mutations in patients has revealed its crucial role in preventing the development of severe neurological disorders, especially those involving early-onset epileptic encephalopathy, developmental retardation, and microcephaly [1,2,3,4].
References:
1. Shen, Y W, Weng, Z F, He, W, Liu, L Y, Shang-Guan, H K. . [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature]. In Zhonghua er ke za zhi = Chinese journal of pediatrics, 58, 1006-1012. doi:10.3760/cma.j.cn112140-20200603-00571. https://pubmed.ncbi.nlm.nih.gov/33256324/
2. Chan, Denise L, Rudinger-Thirion, Joëlle, Frugier, Magali, Kothur, Kavitha, Mohammad, Shekeeb S. 2021. A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders. In Brain & development, 44, 142-147. doi:10.1016/j.braindev.2021.10.009. https://pubmed.ncbi.nlm.nih.gov/34774383/
3. Srivastava, Preeti, Uddin, Md W, Diwakar, Kumar, Biswal, Summet, Senapati, Aishwarya. 2025. Homozygous Mutation in the QARS1 Gene Causing Developmental Epileptic Encephalopathy in Siblings in the Southeast Asian Region: An Interesting Case Report and Discussion. In Cureus, 17, e78333. doi:10.7759/cureus.78333. https://pubmed.ncbi.nlm.nih.gov/40034633/
4. Yahya, Vidal, Monfrini, Edoardo, Celato, Andrea, Di Fonzo, Alessio, Dilena, Robertino. 2024. Childhood-onset focal epilepsy and acute para-infectious encephalopathy in a patient with biallelic QARS1 variants. In Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 46, 1395-1398. doi:10.1007/s10072-024-07957-z. https://pubmed.ncbi.nlm.nih.gov/39715963/
5. Kim, Dong Kyu, Lee, Kayoung, Kang, Beom Sik. 2024. Assembly of the Human Multi-tRNA Synthetase Complex Through Leucine Zipper Motifs. In Journal of molecular biology, 436, 168865. doi:10.1016/j.jmb.2024.168865. https://pubmed.ncbi.nlm.nih.gov/39542129/
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