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C57BL/6JCya-Pnpla2em1/Cya
Common Name:
Pnpla2-KO
Product ID:
S-KO-19219
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
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Basic Information
Strain Name
Pnpla2-KO
Strain ID
KOCMP-66853-Pnpla2-B6J-VA
Gene Name
Pnpla2
Product ID
S-KO-19219
Gene Alias
0610039C21Rik; 1110001C14Rik; Atgl; TTS-2.2
Background
C57BL/6JCya
NCBI ID
66853
Modification
Conventional knockout
Chromosome
7
Phenotype
MGI:1914103
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-Pnpla2em1/Cya mice (Catalog S-KO-19219) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000164016
NCBI RefSeq
NM_001163689
Target Region
Exon 1~3
Size of Effective Region
~4.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Pnpla2, also known as adipose triglyceride lipase (ATGL) and pigment epithelium-derived factor receptor (PEDF-R), is a key enzyme in lipid metabolism. It is involved in triglyceride hydrolysis and lipid-droplet homeostasis in mice and humans, playing a vital role in processes like intracellular lipolysis, releasing fatty acids from triacylglycerol stores for energy production [2,8].

In human hepatoma cells, siRNA inhibition of Pnpla2 reduced intracellular triglyceride hydrolysis and decreased the secretion of triglyceride-rich lipoproteins (TRLs), but had no effect on lipid-droplet homeostasis, which is different from its function in non-hepatic tissues [1]. In mice, ablation of Pnpla2 (PEDF-R) led to photoreceptor degeneration, with deformities in photoreceptors, changes in phospholipid composition, and compromised photoreceptor function [4]. Also, the absence of Pnpla2 in mouse eyes caused a significant accumulation of lipid droplets in retinal pigment epithelium (RPE) cells, declined electroretinography (ERG) response, and delayed dark adaptation, suggesting its role as a retinyl ester (RE) hydrolase in the RPE and an essential component of the visual cycle [6].

In conclusion, Pnpla2 is crucial for lipid metabolism, with functions in triglyceride hydrolysis, lipoprotein secretion, and phospholipid metabolism in different tissues. Mouse models with Pnpla2 knockout have revealed its significance in photoreceptor structure and function, as well as in the visual cycle. Mutations in Pnpla2 are associated with neutral lipid storage diseases, highlighting its importance in understanding related disease mechanisms [3,5,7].

References:
1. Taxiarchis, Apostolos, Mahdessian, Hovsep, Silveira, Angela, Fisher, Rachel M, Van't Hooft, Ferdinand M. 2019. PNPLA2 influences secretion of triglyceride-rich lipoproteins by human hepatoma cells. In Journal of lipid research, 60, 1069-1077. doi:10.1194/jlr.M090928. https://pubmed.ncbi.nlm.nih.gov/30918066/
2. Cerk, Ines Katrin, Wechselberger, Lisa, Oberer, Monika. . Adipose Triglyceride Lipase Regulation: An Overview. In Current protein & peptide science, 19, 221-233. doi:10.2174/1389203718666170918160110. https://pubmed.ncbi.nlm.nih.gov/28925902/
3. Yang, Tong, Zhu, Jie, Kang, Yulai, Zhang, Lili, Guo, Lu. 2024. Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report. In BMC musculoskeletal disorders, 25, 661. doi:10.1186/s12891-024-07772-9. https://pubmed.ncbi.nlm.nih.gov/39174932/
4. Bernardo-Colón, Alexandra, Dong, Lijin, Abu-Asab, Mones, Agbaga, Martin-Paul, Becerra, S Patricia. 2023. Ablation of pigment epithelium-derived factor receptor (PEDF-R/Pnpla2) causes photoreceptor degeneration. In Journal of lipid research, 64, 100358. doi:10.1016/j.jlr.2023.100358. https://pubmed.ncbi.nlm.nih.gov/36934843/
5. Samukawa, Makoto, Nakamura, Naoko, Hirano, Makito, Aoki, Masashi, Kusunoki, Susumu. 2020. Neutral Lipid Storage Disease Associated with the PNPLA2 Gene: Case Report and Literature Review. In European neurology, 83, 317-322. doi:10.1159/000508346. https://pubmed.ncbi.nlm.nih.gov/32564019/
6. Hara, Miwa, Wu, Wenjing, Malechka, Volha V, Ma, Jian-Xing, Moiseyev, Gennadiy. 2023. PNPLA2 mobilizes retinyl esters from retinosomes and promotes the generation of 11-cis-retinal in the visual cycle. In Cell reports, 42, 112091. doi:10.1016/j.celrep.2023.112091. https://pubmed.ncbi.nlm.nih.gov/36763501/
7. Massa, Roberto, Pozzessere, Simone, Rastelli, Emanuele, Bozzali, Marco, Arca, Marcello. 2016. Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation. In Muscle & nerve, 53, 644-8. doi:10.1002/mus.24983. https://pubmed.ncbi.nlm.nih.gov/26600210/
8. Yang, Alexander, Mottillo, Emilio P. . Adipocyte lipolysis: from molecular mechanisms of regulation to disease and therapeutics. In The Biochemical journal, 477, 985-1008. doi:10.1042/BCJ20190468. https://pubmed.ncbi.nlm.nih.gov/32168372/
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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