C57BL/6JCya-Mars1em1/Cya
Common Name:
Mars1-KO
Product ID:
S-KO-17462
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Mars1-KO
Strain ID
KOCMP-216443-Mars1-B6J-VB
Gene Name
Product ID
S-KO-17462
Gene Alias
Mars; Metrs; Mtrns
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
10
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mars1em1/Cya mice (Catalog S-KO-17462) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000171564
NCBI RefSeq
NM_001171582
Target Region
Exon 2~7
Size of Effective Region
~3.2 kb
Detailed Document
Overview of Gene Research
Mars1, the gene encoding methionyl-tRNA synthetase, is involved in aminoacyl-tRNA synthesis, an essential process for protein translation [2,3]. Mutations in this gene have been associated with various human diseases, highlighting its importance in maintaining normal cellular function. It may also play a role in some stress-related signaling pathways, as hinted in some of the research [1].
In the context of human diseases, MARS1 mutations c.2398C > A p.(Pro800Thr) in Family 1 were identified in a study on familial trigeminal neuralgia (FTN). These mutations were found in 53.8% of Family 1 members in the FTN family member group but not in non-familial TN subjects. RNA-seq showed that probands with MARS1 mutations had higher expression of Fosl1 and NFE2, genes related to the integrated stress response (ISR), suggesting that MARS1 mutations may cause chronic activation of ISR, contribute to ISR pathophysiological changes in FTN, and lead to peripheral nerve degeneration [1].
In summary, Mars1 is crucial for protein translation and is associated with diseases such as familial trigeminal neuralgia. Research on MARS1 mutations in FTN families has revealed its potential role in activating the integrated stress response pathway, providing insights into the pathophysiology of this condition. This understanding of Mars1's function in disease may contribute to the development of new therapeutic strategies for related disorders.
References:
1. Wang, Anni, Song, Zimu, Zhang, Xu, Meng, Fangang, Wang, Feng. 2023. MARS1 mutations linked to familial trigeminal neuralgia via the integrated stress response. In The journal of headache and pain, 24, 4. doi:10.1186/s10194-022-01537-2. https://pubmed.ncbi.nlm.nih.gov/36641423/
2. La Fay, Charlotte, Hoebeke, Celia, Juzaud, Marine, Hadchouel, Alice, Fabre, Alexandre. 2021. Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature. In European journal of medical genetics, 64, 104334. doi:10.1016/j.ejmg.2021.104334. https://pubmed.ncbi.nlm.nih.gov/34496286/
3. Botta, Elena, Theil, Arjan F, Raams, Anja, Orioli, Donata, Vermeulen, Wim. . Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. In Human molecular genetics, 30, 1711-1720. doi:10.1093/hmg/ddab123. https://pubmed.ncbi.nlm.nih.gov/33909043/
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