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C57BL/6JCya-Mtx1em1/Cya
Common Name:
Mtx1-KO
Product ID:
S-KO-18753
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Mtx1-KO
Strain ID
KOCMP-17827-Mtx1-B6J-VB
Gene Name
Mtx1
Product ID
S-KO-18753
Gene Alias
Gcap6; Mtx
Background
C57BL/6JCya
NCBI ID
17827
Modification
Conventional knockout
Chromosome
3
Phenotype
MGI:103025
Document
Click here to download >>
Application
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Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Mtx1em1/Cya mice (Catalog S-KO-18753) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000119222
NCBI RefSeq
NM_001357367
Target Region
Exon 3~5
Size of Effective Region
~1.1 kb
Detailed Document
Click here to download >>
Overview of Gene Research
MTX1, also known as Metaxin 1, has been implicated in multiple biological processes and diseases. It appears to be involved in autophagy regulation, and is associated with mitochondria-related functions [1,4]. In the context of disease, it has connections to hepatocellular carcinoma (HCC), gout, Parkinson's disease, and idiopathic pulmonary fibrosis [1,2,3,4].

In HCC, MTX1 was identified through genome-scale CRISPR activation screening as a contributor to sorafenib resistance. Overexpression of MTX1 promoted HCC cell proliferation in vitro and in vivo, increased cell growth rate, decreased apoptosis upon sorafenib treatment, and was linked to poor outcomes in patients receiving sorafenib. Mechanistically, it promotes autophagy by interacting with and inhibiting CISD1, an autophagy negative regulator [1].

In gout, MTX1 was identified as one of four genes related by protein-protein interaction network analysis [2].

In Parkinson's disease, the MTX1 c.184T > A (p.S63T) variation was associated with GBA mutations, and the homozygous MTX1 c.184A/A genotype was associated with an earlier age of motor symptoms onset in patients with GBA mutations [3].

In idiopathic pulmonary fibrosis, MTX1 was among the mitochondria-related genes associated with the disease, and its expression was elevated in pulmonary myofibroblasts of IPF [4].

In conclusion, MTX1 plays diverse and significant roles in various biological processes and disease conditions. Its overexpression in HCC contributes to sorafenib resistance through autophagy regulation. In Parkinson's disease, its specific genetic variation modifies the age of onset in GBA-associated cases. And in idiopathic pulmonary fibrosis, its altered expression in relevant cells may be involved in the disease pathogenesis. The study of MTX1 using genetic models helps to understand its role in these diseases, potentially providing new therapeutic targets [1,3,4].

References:
1. Li, Li, Yu, Shijun, Hu, Qingqing, Hai, Yanan, Li, Yandong. 2021. Genome-scale CRISPRa screening identifies MTX1 as a contributor for sorafenib resistance in hepatocellular carcinoma by augmenting autophagy. In International journal of biological sciences, 17, 3133-3144. doi:10.7150/ijbs.62393. https://pubmed.ncbi.nlm.nih.gov/34421355/
2. Yang, Yubiao, Hu, Ping, Zhang, Qinnan, Hao, Jian, Zhou, Xianhu. 2024. Single-cell and genome-wide Mendelian randomization identifies causative genes for gout. In Arthritis research & therapy, 26, 114. doi:10.1186/s13075-024-03348-z. https://pubmed.ncbi.nlm.nih.gov/38831441/
3. Gan-Or, Ziv, Bar-Shira, Anat, Gurevich, Tanya, Giladi, Nir, Orr-Urtreger, Avi. 2011. Homozygosity for the MTX1 c.184T>A (p.S63T) alteration modifies the age of onset in GBA-associated Parkinson's disease. In Neurogenetics, 12, 325-32. doi:10.1007/s10048-011-0293-6. https://pubmed.ncbi.nlm.nih.gov/21837367/
4. Li, Xiaoxia, Lin, Qiaojing, Guan, Bingyue, Hong, Jinsheng, Zhang, Mingwei. 2025. Multi-Omics Analysis Links Mitochondrial-Related Genes to Idiopathic Pulmonary Fibrosis and In Vivo Transcriptome Validation. In Translational research : the journal of laboratory and clinical medicine, 278, 10-21. doi:10.1016/j.trsl.2025.02.002. https://pubmed.ncbi.nlm.nih.gov/39952317/
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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