C57BL/6JCya-Pnpla3em1flox/Cya
Common Name:
Pnpla3-flox
Product ID:
S-CKO-01170
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Pnpla3-flox
Strain ID
CKOCMP-116939-Pnpla3-B6J-VA
Gene Name
Product ID
S-CKO-01170
Gene Alias
Adpn
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
15
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pnpla3em1flox/Cya mice (Catalog S-CKO-01170) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000045289
NCBI RefSeq
NM_054088
Target Region
Exon 2
Size of Effective Region
~2.2 kb
Detailed Document
Overview of Gene Research
Pnpla3, also known as patatin-like phospholipase domain-containing 3, encodes a 481-amino-acid protein with lipase activity towards triglycerides and retinyl esters, and acyltransferase activity on phospholipids [8]. It is involved in hepatic lipid metabolism, playing a role in the balance between hepatic triglyceride storage and secretion [6]. The genetic variant rs738409, which leads to an isoleucine to methionine substitution at position 148 (I148M) of the protein, is strongly associated with non-alcoholic fatty liver disease (NAFLD) and other liver diseases [1,2,3,4,5,7,8].
In mice, liver-specific knockout or acute knockdown of Pnpla3 under lipogenic conditions leads to aggravated liver steatosis and reduced plasma very-low-density lipoprotein-triglyceride levels. Similarly, I148M-knockin mice show decreased hepatic triglyceride secretion during lipogenic stimulation. These findings suggest that wild-type Pnpla3 facilitates the balance between hepatic triglyceride storage and secretion, and the I148M variant's loss-of-function may contribute to fatty liver disease [6].
In conclusion, Pnpla3 is crucial for hepatic lipid metabolism, especially in maintaining the balance of triglyceride storage and secretion. Mouse models, such as gene knockout and knockin models, have provided valuable insights into the role of Pnpla3 in fatty liver disease, highlighting its potential as a therapeutic target for liver-related diseases [1,6].
References:
1. Cherubini, Alessandro, Casirati, Elia, Tomasi, Melissa, Valenti, Luca. 2021. PNPLA3 as a therapeutic target for fatty liver disease: the evidence to date. In Expert opinion on therapeutic targets, 25, 1033-1043. doi:10.1080/14728222.2021.2018418. https://pubmed.ncbi.nlm.nih.gov/34904923/
2. Romeo, Stefano, Kozlitina, Julia, Xing, Chao, Cohen, Jonathan C, Hobbs, Helen H. 2008. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. In Nature genetics, 40, 1461-5. doi:10.1038/ng.257. https://pubmed.ncbi.nlm.nih.gov/18820647/
3. Chen, Vincent L, Oliveri, Antonino, Miller, Matthew J, Lok, Anna S, Speliotes, Elizabeth K. 2023. PNPLA3 Genotype and Diabetes Identify Patients With Nonalcoholic Fatty Liver Disease at High Risk of Incident Cirrhosis. In Gastroenterology, 164, 966-977.e17. doi:10.1053/j.gastro.2023.01.040. https://pubmed.ncbi.nlm.nih.gov/36758837/
4. Boeckmans, Joost, Gatzios, Alexandra, Schattenberg, Jörn M, Rodrigues, Robim M, Vanhaecke, Tamara. 2023. PNPLA3 I148M and response to treatment for hepatic steatosis: A systematic review. In Liver international : official journal of the International Association for the Study of the Liver, 43, 975-988. doi:10.1111/liv.15533. https://pubmed.ncbi.nlm.nih.gov/36719059/
5. Cherubini, Alessandro, Ostadreza, Mahnoosh, Jamialahmadi, Oveis, Romeo, Stefano, Valenti, Luca. 2023. Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women. In Nature medicine, 29, 2643-2655. doi:10.1038/s41591-023-02553-8. https://pubmed.ncbi.nlm.nih.gov/37749332/
6. Johnson, Scott M, Bao, Hanmei, McMahon, Cailin E, Han, Xianlin, Liu, Jun. 2024. PNPLA3 is a triglyceride lipase that mobilizes polyunsaturated fatty acids to facilitate hepatic secretion of large-sized very low-density lipoprotein. In Nature communications, 15, 4847. doi:10.1038/s41467-024-49224-x. https://pubmed.ncbi.nlm.nih.gov/38844467/
7. Galvanin, Clélia, Buch, Stephan, Nahon, Pierre, Trépo, Eric. . PNPLA3 in Alcohol-Related Liver Disease. In Liver international : official journal of the International Association for the Study of the Liver, 45, e16211. doi:10.1111/liv.16211. https://pubmed.ncbi.nlm.nih.gov/39679853/
8. Pingitore, Piero, Romeo, Stefano. 2018. The role of PNPLA3 in health and disease. In Biochimica et biophysica acta. Molecular and cell biology of lipids, 1864, 900-906. doi:10.1016/j.bbalip.2018.06.018. https://pubmed.ncbi.nlm.nih.gov/29935383/
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