C57BL/6NCya-Tympem1flox/Cya
Common Name:
Tymp-flox
Product ID:
S-CKO-15604
Background:
C57BL/6NCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Tymp-flox
Strain ID
CKOCMP-72962-Tymp-B6N-VA
Gene Name
Product ID
S-CKO-15604
Gene Alias
2900072D10Rik; Ecgf1; PD-ECGF; PDECGF; Pdgfec; TP
Background
C57BL/6NCya
NCBI ID
Modification
Conditional knockout
Chromosome
15
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6NCya-Tympem1flox/Cya mice (Catalog S-CKO-15604) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023285
NCBI RefSeq
NM_138302
Target Region
Exon 2~4
Size of Effective Region
~1.4 kb
Detailed Document
Overview of Gene Research
TYMP, encoding thymidine phosphorylase (TP), is a cytosolic metabolic enzyme. It is involved in maintaining a balanced mitochondrial nucleotide pool, which is crucial for mitochondrial DNA (mtDNA) maintenance [4]. Mutations in TYMP can lead to mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), indicating its importance in mitochondrial-related biological processes [2,5,6].
TYMP deficiency is associated with multiple diseases. In MNGIE patients, there are specific alterations in nucleosides, bile acids, and steroid metabolites, along with decreased cholesterol and fatty acid metabolism [2]. In multiple sclerosis, a per standard deviation increase in plasma TYMP has a protective effect, suggesting it may be a promising drug target [1]. In clear cell renal cell carcinoma (ccRCC), high TYMP expression is related to poor prognosis, and knockdown of TYMP can suppress cell aggressiveness [3].
In conclusion, TYMP is essential for maintaining mitochondrial nucleotide balance and mtDNA integrity. Its deficiency is linked to MNGIE and it plays roles in multiple sclerosis and ccRCC. Studies on TYMP help to understand the related disease mechanisms, potentially providing new directions for treatment in these disease areas.
References：
1. Lin, Jianfeng, Zhou, Jiawei, Xu, Yan. . Potential drug targets for multiple sclerosis identified through Mendelian randomization analysis. In Brain : a journal of neurology, 146, 3364-3372. doi:10.1093/brain/awad070. https://pubmed.ncbi.nlm.nih.gov/36864689/
2. Du, Jixiang, Zhang, Chao, Liu, Fuchen, Zhao, Yuying, Yan, Chuanzhu. 2023. Distinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction. In Journal of molecular medicine (Berlin, Germany), 101, 1237-1253. doi:10.1007/s00109-023-02358-9. https://pubmed.ncbi.nlm.nih.gov/37603049/
3. Chen, Shao-An, Zhang, Jun-Peng, Wang, Ning, Chen, Ji. . Identifying TYMP as an Immune Prognostic Marker in Clear Cell Renal Cell Carcinoma. In Technology in cancer research & treatment, 22, 15330338231194555. doi:10.1177/15330338231194555. https://pubmed.ncbi.nlm.nih.gov/38043946/
4. El-Hattab, Ayman W, Craigen, William J, Scaglia, Fernando. 2017. Mitochondrial DNA maintenance defects. In Biochimica et biophysica acta. Molecular basis of disease, 1863, 1539-1555. doi:10.1016/j.bbadis.2017.02.017. https://pubmed.ncbi.nlm.nih.gov/28215579/
5. Mojtabavi, Helia, Fatehi, Farzad, Shahkarami, Sepideh, Rezaei, Nima, Nafissi, Shahriar. 2021. Novel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review. In Journal of molecular neuroscience : MN, 71, 2526-2533. doi:10.1007/s12031-021-01822-w. https://pubmed.ncbi.nlm.nih.gov/33825174/
6. Ronchi, Dario, Caporali, Leonardo, Manenti, Giulia Francesca, Carelli, Valerio, Comi, Giacomo Pietro. 2020. TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis. In Frontiers in genetics, 11, 860. doi:10.3389/fgene.2020.00860. https://pubmed.ncbi.nlm.nih.gov/32849836/
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