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C57BL/6JCya-Hnf4aem1flox/Cya
Common Name:
Hnf4a-flox
Product ID:
S-CKO-02921
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Price:
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Basic Information
Strain Name
Hnf4a-flox
Strain ID
CKOCMP-15378-Hnf4a-B6J-VA
Gene Name
Hnf4a
Product ID
S-CKO-02921
Gene Alias
HNF-4; Hnf4; Hnf4alpha; MODY1; Nr2a1; TCF-14; Tcf14
Background
C57BL/6JCya
NCBI ID
15378
Modification
Conditional knockout
Chromosome
2
Phenotype
MGI:109128
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-Hnf4aem1flox/Cya mice (Catalog S-CKO-02921) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000018094
NCBI RefSeq
NM_008261
Target Region
Exon 2
Size of Effective Region
~0.7 kb
Detailed Document
Click here to download >>
Overview of Gene Research
Hnf4a, short for hepatocyte nuclear factor 4 alpha, encodes a transcription factor crucial for the development and function of the pancreas and liver [4]. It is involved in multiple biological processes such as regulating reabsorption-related genes during murine kidney development, influencing hepatocyte differentiation, and modulating glucocorticoid action in the liver [3,5,6]. Mutations in Hnf4a have been linked to Maturity Onset Diabetes of the Young (MODY), type 2 diabetes, and Fanconi syndrome [2,4,7].

In mouse models, repeated in vivo delivery of LNP-encapsulated Hnf4a mRNA robustly inhibited fibrogenesis in 4 independent mouse models of hepatotoxin-and cholestasis-induced liver fibrosis, suggesting its potential as a therapeutic target for liver fibrosis and cirrhosis [1]. In human kidney organoids, knockout of Hnf4a, but not Hnf4g, impaired reabsorption-related molecule expression and microvilli formation in human proximal tubules, revealing its role in proximal tubule differentiation [3].

In conclusion, Hnf4a plays essential roles in the development and function of multiple organs and is involved in various diseases like diabetes and liver fibrosis. The study of Hnf4a using gene-knockout models, such as in mouse models and human kidney organoids, has provided insights into its functions in specific biological processes and disease conditions, offering potential therapeutic directions for related diseases.

References:
1. Yang, Taihua, Poenisch, Marion, Khanal, Rajendra, Ott, Michael, Sharma, Amar Deep. 2021. Therapeutic HNF4A mRNA attenuates liver fibrosis in a preclinical model. In Journal of hepatology, 75, 1420-1433. doi:10.1016/j.jhep.2021.08.011. https://pubmed.ncbi.nlm.nih.gov/34453962/
2. Mirshahi, Uyenlinh L, Colclough, Kevin, Wright, Caroline F, Weedon, Michael N, Patel, Kashyap A. 2022. Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. In American journal of human genetics, 109, 2018-2028. doi:10.1016/j.ajhg.2022.09.014. https://pubmed.ncbi.nlm.nih.gov/36257325/
3. Yoshimura, Yasuhiro, Muto, Yoshiharu, Omachi, Kohei, Miner, Jeffrey H, Humphreys, Benjamin D. 2023. Elucidating the Proximal Tubule HNF4A Gene Regulatory Network in Human Kidney Organoids. In Journal of the American Society of Nephrology : JASN, 34, 1672-1686. doi:10.1681/ASN.0000000000000197. https://pubmed.ncbi.nlm.nih.gov/37488681/
4. Ng, Natasha Hui Jin, Ghosh, Soumita, Bok, Chek Mei, Hoon, Shawn, Teo, Adrian Kee Keong. 2024. HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes. In Nature communications, 15, 4288. doi:10.1038/s41467-024-48647-w. https://pubmed.ncbi.nlm.nih.gov/38909044/
5. Alder, Olivia, Cullum, Rebecca, Lee, Sam, Marra, Marco A, Hoodless, Pamela A. 2014. Hippo signaling influences HNF4A and FOXA2 enhancer switching during hepatocyte differentiation. In Cell reports, 9, 261-271. doi:10.1016/j.celrep.2014.08.046. https://pubmed.ncbi.nlm.nih.gov/25263553/
6. Hunter, A Louise, Poolman, Toryn M, Kim, Donghwan, Iqbal, Mudassar, Ray, David W. . HNF4A modulates glucocorticoid action in the liver. In Cell reports, 39, 110697. doi:10.1016/j.celrep.2022.110697. https://pubmed.ncbi.nlm.nih.gov/35443180/
7. Liu, Jiaojiao, Shen, Qian, Li, Guomin, Xu, Hong. 2018. HNF4A-related Fanconi syndrome in a Chinese patient: a case report and review of the literature. In Journal of medical case reports, 12, 203. doi:10.1186/s13256-018-1740-x. https://pubmed.ncbi.nlm.nih.gov/30005691/
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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