C57BL/6JCya-Pmm2em1flox/Cya
Common Name:
Pmm2-flox
Product ID:
S-CKO-18320
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Pmm2-flox
Strain ID
CKOCMP-54128-Pmm2-B6J-VB
Gene Name
Product ID
S-CKO-18320
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
16
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pmm2em1flox/Cya mice (Catalog S-CKO-18320) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023396
NCBI RefSeq
NM_016881
Target Region
Exon 3~4
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
PMM2, encoding phosphomannomutase 2, is crucial for the conversion of Man-6-P to Man-1-P. This reaction is essential for the synthesis of guanosine 5'-diphospho-D-mannose, a key nucleotide-activated sugar in constructing protein oligosaccharide chains, thus being involved in protein glycosylation pathways [1].
Mutations in PMM2 cause phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-linked glycosylation disorder [2]. PMM2-CDG patients display a multisystem phenotype, including central nervous system involvement, hepatopathy, and renal abnormalities [2]. In vitro neural models of PMM2-CDG show aberrant neural activity, impaired protein glycosylation, mitochondrial structure, and abnormal glucose metabolism [3]. There is an ongoing search for treatments, including strategies to increase Man-1-P levels, use of mannose derivates, enzyme inhibitors, or repurposed drugs to boost GDP-Man synthesis [1]. A CRISPR-Cas9-generated HepG2 PMM2-CDG knockout model recapitulates the disease phenotype, useful for studying new PMM2 clinical variants and evaluating therapies [4].
In conclusion, PMM2 is vital for protein glycosylation through its role in the synthesis of an essential sugar for oligosaccharide chain construction. Studies on PMM2-CDG, including those using knockout models, have revealed its significance in various biological processes and disease conditions, providing insights into potential therapeutic strategies for this disorder.
References:
1. Gámez, Alejandra, Serrano, Mercedes, Gallego, Diana, Vilas, Alicia, Pérez, Belén. 2020. New and potential strategies for the treatment of PMM2-CDG. In Biochimica et biophysica acta. General subjects, 1864, 129686. doi:10.1016/j.bbagen.2020.129686. https://pubmed.ncbi.nlm.nih.gov/32712172/
2. Altassan, Ruqaiah, Witters, Peter, Saifudeen, Zubaida, Cassiman, David, Morava, Eva. 2017. Renal involvement in PMM2-CDG, a mini-review. In Molecular genetics and metabolism, 123, 292-296. doi:10.1016/j.ymgme.2017.11.012. https://pubmed.ncbi.nlm.nih.gov/29229467/
3. Radenkovic, Silvia, Budhraja, Rohit, Klein-Gunnewiek, Teun, Morava, Eva, Kozicz, Tamas. 2024. Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models. In Cell reports, 43, 113883. doi:10.1016/j.celrep.2024.113883. https://pubmed.ncbi.nlm.nih.gov/38430517/
4. Vilas, Alicia, Briso-Montiano, Álvaro, Segovia-Falquina, Cristina, Gámez, Alejandra, Pérez, Belén. 2024. HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation. In Molecular genetics and metabolism, 143, 108538. doi:10.1016/j.ymgme.2024.108538. https://pubmed.ncbi.nlm.nih.gov/39096554/
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