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C57BL/6JCya-Pgm1em1flox/Cya
Common Name:
Pgm1-flox
Product ID:
S-CKO-15380
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Pgm1-flox
Strain ID
CKOCMP-72157-Pgm1-B6J-VA
Gene Name
Pgm1
Product ID
S-CKO-15380
Gene Alias
2610020G18Rik; Pgm-2; Pgm1a; Pgm2
Background
C57BL/6JCya
NCBI ID
72157
Modification
Conditional knockout
Chromosome
4
Phenotype
MGI:97565
Document
Click here to download >>
Application
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More
Rare Disease Data Center >>
Note
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pgm1em1flox/Cya mice (Catalog S-CKO-15380) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000058351
NCBI RefSeq
NM_028132
Target Region
Exon 2~3
Size of Effective Region
~2.3 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Pgm1, or phosphoglucomutase 1, is an enzyme responsible for the reversible inter-conversion of glucose-1-P and glucose-6-P. It is involved in crucial pathways such as glycogen metabolism, glycolysis, and protein glycosylation, playing an overall significant role in maintaining normal cellular metabolism [1,2,4,5]. Genetic models, like gene knockout (KO) models, could potentially be used to further explore its functions.

Mutations in Pgm1 cause PGM1-CDG, a rare genetic disorder that affects multiple systems. In infants, it often presents with cleft palate, liver function abnormalities, and hypoglycemia, while in adults, it may show as isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Central nervous system involvement is also common, and it can occur even without hypoglycemia [1,2]. PGM1-CDG patients can be effectively treated with d-galactose, which metabolically re-wires sugar metabolism in fibroblasts, replenishing nucleotide sugars for glycosylation [1,4]. In addition, PGM1 seems to suppress colorectal cancer cell migration and invasion by regulating the PI3K/AKT pathway, and in glioma, its knockdown inhibits cell viability, glycolysis, and oxidative phosphorylation under low-glucose conditions via the Myc signaling pathway [3,6]. Coagulation abnormalities are frequently present in PGM1-CDG and can be improved by D-gal treatment [7].

In conclusion, Pgm1 is essential for normal cellular metabolism through its involvement in multiple key pathways. Studies using genetic models, although not directly detailed in the provided references, would likely enhance our understanding. Pgm1-related research has implications for various disease areas, especially PGM1-CDG, colorectal cancer, and glioma, highlighting its potential as a therapeutic target in these diseases.

References:
1. Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C, Witters, Peter, Morava, Eva. 2020. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. In Journal of inherited metabolic disease, 44, 148-163. doi:10.1002/jimd.12286. https://pubmed.ncbi.nlm.nih.gov/32681750/
2. Radenkovic, Silvia, Witters, Peter, Morava, Eva. 2018. Central nervous involvement is common in PGM1-CDG. In Molecular genetics and metabolism, 125, 200-204. doi:10.1016/j.ymgme.2018.08.008. https://pubmed.ncbi.nlm.nih.gov/30262252/
3. Zheng, Zhewen, Zhang, Xue, Bai, Jian, Liu, Di, Zhou, Yunfeng. 2022. PGM1 suppresses colorectal cancer cell migration and invasion by regulating the PI3K/AKT pathway. In Cancer cell international, 22, 201. doi:10.1186/s12935-022-02545-7. https://pubmed.ncbi.nlm.nih.gov/35614441/
4. Radenkovic, Silvia, Bird, Matthew J, Emmerzaal, Tim L, Morava, Eva, Ghesquière, Bart. 2019. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. In American journal of human genetics, 104, 835-846. doi:10.1016/j.ajhg.2019.03.003. https://pubmed.ncbi.nlm.nih.gov/30982613/
5. Perales-Clemente, Ester, Liedtke, Kristen, Studinski, April, Morava, Eva, Raymond, Kimiyo. 2021. A new D-galactose treatment monitoring index for PGM1-CDG. In Journal of inherited metabolic disease, 44, 1263-1271. doi:10.1002/jimd.12406. https://pubmed.ncbi.nlm.nih.gov/34043239/
6. Liu, Shenghua, Deng, Yuanyin, Yu, Yunhu, Xia, Xiangping. 2023. Knock-down of PGM1 inhibits cell viability, glycolysis, and oxidative phosphorylation in glioma under low glucose condition via the Myc signaling pathway. In Biochemical and biophysical research communications, 656, 38-45. doi:10.1016/j.bbrc.2023.03.034. https://pubmed.ncbi.nlm.nih.gov/36947965/
7. Radenkovic, Silvia, Bleukx, Sofie, Engelhardt, Nicole, Edmondson, Andrew C, Morava, Eva. 2024. Coagulation abnormalities and vascular complications are common in PGM1-CDG. In Molecular genetics and metabolism, 142, 108530. doi:10.1016/j.ymgme.2024.108530. https://pubmed.ncbi.nlm.nih.gov/38968673/
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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