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C57BL/6JCya-Tmem127em1flox/Cya
Common Name:
Tmem127-flox
Product ID:
S-CKO-14533
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Price:
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Basic Information
Strain Name
Tmem127-flox
Strain ID
CKOCMP-69470-Tmem127-B6J-VA
Gene Name
Tmem127
Product ID
S-CKO-14533
Gene Alias
2310003P10Rik
Background
C57BL/6JCya
NCBI ID
69470
Modification
Conditional knockout
Chromosome
2
Phenotype
MGI:1916720
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-Tmem127em1flox/Cya mice (Catalog S-CKO-14533) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000035871
NCBI RefSeq
NM_175145
Target Region
Exon 3~4
Size of Effective Region
~1.5 kb
Detailed Document
Click here to download >>
Overview of Gene Research
TMEM127, a transmembrane protein-encoding gene, functions as a tumor suppressor. It is involved in multiple biological processes, such as being part of the mTORC1 lysosomal nutrient-sensing complex, regulating insulin sensitivity, and participating in receptor tyrosine kinase (RTK) trafficking [6,3,2]. Its dysfunction is associated with diseases like pheochromocytoma and paraganglioma [1,2,4,5,7].

In TMEM127-mutant pheochromocytomas, human cells, and mouse knockout models, there is an accumulation of RET and increased RET signaling due to TMEM127's role in RET cellular positioning, trafficking, and lysosome-mediated degradation [2]. Whole-body Tmem127 knockout mice show decreased adiposity and maintain insulin sensitivity, low hepatic fat deposition, and peripheral glucose clearance after a high-fat diet. Liver-specific and adipose-specific Tmem127 deletion also reveals tissue-specific effects on insulin-related metabolism [3]. Loss of TMEM127 in cell models causes wild-type RET protein accumulation on the cell surface, driving cell proliferation, and also leads to global defects in surface protein activity and function [4].

In conclusion, TMEM127 plays essential roles in tumor suppression, insulin sensitivity regulation, and membrane protein trafficking. Studies using knockout mouse models have been crucial in revealing its role in pheochromocytoma development and metabolic regulation, providing insights into the underlying disease mechanisms and potential therapeutic targets.

References:
1. Bausch, Birke, Schiavi, Francesca, Ni, Ying, Eng, Charis, Neumann, Hartmut P H. . Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention. In JAMA oncology, 3, 1204-1212. doi:10.1001/jamaoncol.2017.0223. https://pubmed.ncbi.nlm.nih.gov/28384794/
2. Guo, Qianjin, Cheng, Zi-Ming, Gonzalez-Cantú, Hector, Aguiar, Ricardo C T, Dahia, Patricia L M. 2023. TMEM127 suppresses tumor development by promoting RET ubiquitination, positioning, and degradation. In Cell reports, 42, 113070. doi:10.1016/j.celrep.2023.113070. https://pubmed.ncbi.nlm.nih.gov/37659079/
3. Srikantan, Subramanya, Deng, Yilun, Cheng, Zi-Ming, Aguiar, Ricardo C T, Dahia, Patricia L M. 2019. The tumor suppressor TMEM127 regulates insulin sensitivity in a tissue-specific manner. In Nature communications, 10, 4720. doi:10.1038/s41467-019-12661-0. https://pubmed.ncbi.nlm.nih.gov/31624249/
4. Walker, Timothy J, Reyes-Alvarez, Eduardo, Hyndman, Brandy D, Antonescu, Costin N, Mulligan, Lois M. 2024. Loss of tumor suppressor TMEM127 drives RET-mediated transformation through disrupted membrane dynamics. In eLife, 12, . doi:10.7554/eLife.89100. https://pubmed.ncbi.nlm.nih.gov/38687678/
5. Buffet, Alexandre, Burnichon, Nelly, Favier, Judith, Gimenez-Roqueplo, Anne-Paule. 2020. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. In Best practice & research. Clinical endocrinology & metabolism, 34, 101416. doi:10.1016/j.beem.2020.101416. https://pubmed.ncbi.nlm.nih.gov/32295730/
6. Deng, Yilun, Qin, Yuejuan, Srikantan, Subramanya, Wang, Exing, Dahia, Patricia L M. . The TMEM127 human tumor suppressor is a component of the mTORC1 lysosomal nutrient-sensing complex. In Human molecular genetics, 27, 1794-1808. doi:10.1093/hmg/ddy095. https://pubmed.ncbi.nlm.nih.gov/29547888/
7. Muth, A, Crona, J, Gimm, O, Tengvar, M, Tham, E. 2019. Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma. In Journal of internal medicine, 285, 187-204. doi:10.1111/joim.12869. https://pubmed.ncbi.nlm.nih.gov/30536464/
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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