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C57BL/6JCya-Duox2em1flox/Cya
Common Name:
Duox2-flox
Product ID:
S-CKO-18791
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Duox2-flox
Strain ID
CKOCMP-214593-Duox2-B6J-VB
Gene Name
Duox2
Product ID
S-CKO-18791
Gene Alias
A430065P05Rik; LNOX2; NOXEF2; P138-TOX; THOX2
Background
C57BL/6JCya
NCBI ID
214593
Modification
Conditional knockout
Chromosome
2
Phenotype
MGI:3036280
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-Duox2em1flox/Cya mice (Catalog S-CKO-18791) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000237546
NCBI RefSeq
NM_001362755
Target Region
Exon 7~10
Size of Effective Region
~1.8 kb
Detailed Document
Click here to download >>
Overview of Gene Research
DUOX2, short for Dual Oxidase 2, is a key enzyme involved in the production of hydrogen peroxide. It plays a role in innate defense responses, such as in the gut-epithelial cells where the release of hydrogen peroxide by DUOX is a primordial innate defense mechanism [2]. In the thyroid, DUOX2 is crucial for thyroid hormone biosynthesis [1,3,6]. Its function is associated with pathways related to immune-microbiota homeostasis, viral defense in respiratory epithelial cells, and tumorigenesis in the context of colonic inflammation [2,4,5]. Genetic models, especially gene knockout (KO) or conditional knockout (CKO) mouse models, can be valuable for studying its function.

In congenital hypothyroidism (CH), DUOX2 is the most frequently mutated gene in the Chinese population. Biallelic and triple variants of DUOX2 are common in children with thyroid dysgenesis (TD) and gland-in-situ (GIS), types of CH. The residual enzymatic activity of DUOX2 is closely related to the clinical phenotypes of CH patients caused by DUOX2 biallelic mutations, with 22% residual activity potentially being a cutoff for estimating hypothyroidism severity [1,3]. In inflammatory bowel disease (IBD), rare loss-of-function variants of DUOX2 are associated with increased plasma levels of interleukin-17C, a marker for epithelial activation by gram-negative bacteria, suggesting DUOX2 as an IBD risk gene [2]. In virus-infected respiratory epithelial cells, DUOX2 deficiency selectively reduces the induction of certain cytokines and chemokines, affecting neutrophil attraction and activation [4]. In colitis-associated neoplasia, epithelial TLR4 signaling activates DUOX2, leading to increased epithelial hydrogen peroxide production and microbiota-driven tumorigenesis. TLR4-dependent tumorigenesis requires DUOX2 and a microbiota [5].

In conclusion, DUOX2 is essential for thyroid hormone biosynthesis and plays important roles in maintaining microbiota-immune homeostasis, responding to viral infections in the respiratory tract, and in colonic tumorigenesis. Studies using KO or CKO mouse models have revealed its role in these disease-related biological processes, contributing to our understanding of the pathogenesis of congenital hypothyroidism, IBD, and colitis-associated neoplasia.

References:
1. Wang, Fengqi, Zang, Yucui, Li, Miaomiao, Wang, Fang, Liu, Shiguo. 2020. DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism. In Frontiers in endocrinology, 11, 237. doi:10.3389/fendo.2020.00237. https://pubmed.ncbi.nlm.nih.gov/32425884/
2. Grasberger, Helmut, Magis, Andrew T, Sheng, Elisa, Omenn, Gilbert S, Kao, John Y. . DUOX2 variants associate with preclinical disturbances in microbiota-immune homeostasis and increased inflammatory bowel disease risk. In The Journal of clinical investigation, 131, . doi:10.1172/JCI141676. https://pubmed.ncbi.nlm.nih.gov/33651715/
3. Sun, Feng, Zhang, Rui-Jia, Cheng, Feng, Dong, Mei, Song, Huai-Dong. 2021. Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects. In Clinical genetics, 100, 713-721. doi:10.1111/cge.14065. https://pubmed.ncbi.nlm.nih.gov/34564849/
4. Kasumba, Dacquin M, Huot, Sandrine, Caron, Elise, Pouliot, Marc, Grandvaux, Nathalie. . DUOX2 regulates secreted factors in virus-infected respiratory epithelial cells that contribute to neutrophil attraction and activation. In FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 37, e22765. doi:10.1096/fj.202201205R. https://pubmed.ncbi.nlm.nih.gov/36607642/
5. Burgueño, Juan F, Fritsch, Julia, González, Eddy E, Conner, Gregory E, Abreu, Maria T. 2020. Epithelial TLR4 Signaling Activates DUOX2 to Induce Microbiota-Driven Tumorigenesis. In Gastroenterology, 160, 797-808.e6. doi:10.1053/j.gastro.2020.10.031. https://pubmed.ncbi.nlm.nih.gov/33127391/
6. Kostopoulou, Eirini, Miliordos, Konstantinos, Spiliotis, Bessie. 2021. Genetics of primary congenital hypothyroidism-a review. In Hormones (Athens, Greece), 20, 225-236. doi:10.1007/s42000-020-00267-x. https://pubmed.ncbi.nlm.nih.gov/33400193/
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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