C57BL/6JCya-Ptpmt1em1/Cya
Common Name:
Ptpmt1-KO
Product ID:
S-KO-18125
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Ptpmt1-KO
Strain ID
KOCMP-66461-Ptpmt1-B6J-VA
Gene Name
Product ID
S-KO-18125
Gene Alias
1110001D10Rik; 2810004N20Rik; PLIP
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ptpmt1em1/Cya mice (Catalog S-KO-18125) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000111461
NCBI RefSeq
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Target Region
Exon 1~2
Size of Effective Region
~2.1 kb
Detailed Document
Overview of Gene Research
PTPMT1, a mitochondrial tyrosine phosphatase, is essential for de novo cardiolipin biosynthesis in mitochondria. Cardiolipin, a key phospholipid in the inner mitochondrial membrane, is involved in multiple mitochondrial functions, thus highlighting PTPMT1's significance in maintaining mitochondrial integrity and function. Zebrafish and fly models have been used to study its functions [1,4].
Six individuals from three families with biallelic PTPMT1 variants presented a neonatal/infantile onset neurological and neurodevelopmental syndrome. Patient-derived cells and a ptpmt1 knockout zebrafish model showed abnormal mitochondrial structure and function, decreased cardiolipin levels, and OXPHOS deficiency, indicating that PTPMT1 loss-of-function causes a new autosomal recessive primary mitochondrial disease due to impaired cardiolipin metabolism [1]. In pancreatic cancer cells, PTPMT1 silencing reduced cell viability, caused mitochondrial damage, and impaired mitochondrial function, suggesting it may modulate mitochondrial function via the SLC25A6-NDUFS2 axis [3]. In irradiated cardiomyocytes, γ-ray irradiation decreased PTPMT1 expression, increased oxidative stress, and induced mitochondrial dysfunction and necroptosis, while overexpression of PTPMT1 alleviated these effects [2].
In conclusion, PTPMT1 is crucial for maintaining normal mitochondrial function, especially in cardiolipin metabolism. Studies using gene-knockout models in zebrafish and in functional knockdown in mammalian cells have revealed its role in various disease-related processes such as neurodevelopmental syndromes, pancreatic cancer, and radiation-induced heart disease. These findings highlight the importance of PTPMT1 in understanding the mechanisms underlying these diseases and potentially developing new therapeutic strategies.
References:
1. Falabella, Micol, Pizzamiglio, Chiara, Tabara, Luis Carlos, Prudent, Julien, Pitceathly, Robert D S. . Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome. In Brain : a journal of neurology, 148, 647-662. doi:10.1093/brain/awae268. https://pubmed.ncbi.nlm.nih.gov/39279645/
2. Yi, Jing, Yue, Liang, Zhang, Yuning, Tan, Yingxia, Wang, Hua. 2023. PTPMT1 protects cardiomyocytes from necroptosis induced by γ-ray irradiation through alleviating mitochondria injury. In American journal of physiology. Cell physiology, 324, C1320-C1331. doi:10.1152/ajpcell.00466.2022. https://pubmed.ncbi.nlm.nih.gov/37154493/
3. Ding, Peng-Peng, Huang, Xiao-Dong, Shen, Lei, Lin, Dong-Dong, Xiao, Feng-Jun. 2023. PTPMT1 regulates mitochondrial death through the SLC25A6-NDUFS2 axis in pancreatic cancer cells. In American journal of cancer research, 13, 992-1003. doi:. https://pubmed.ncbi.nlm.nih.gov/37034225/
4. Papakyrikos, Amanda M, Kim, Min Joo, Wang, Xinnan. 2020. Drosophila PTPMT1 Has a Function in Tracheal Air Filling. In iScience, 23, 101285. doi:10.1016/j.isci.2020.101285. https://pubmed.ncbi.nlm.nih.gov/32629421/
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