C57BL/6JCya-Duoxa2em1flox/Cya
Common Name:
Duoxa2-flox
Product ID:
S-CKO-13308
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Duoxa2-flox
Strain ID
CKOCMP-66811-Duoxa2-B6J-VA
Gene Name
Product ID
S-CKO-13308
Gene Alias
9030623N16Rik; Nip2
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
2
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Duoxa2em1flox/Cya mice (Catalog S-CKO-13308) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000028656
NCBI RefSeq
NM_025777
Target Region
Exon 2~3
Size of Effective Region
~1.1 kb
Detailed Document
Overview of Gene Research
DUOXA2, encoding dual oxidase maturation factor 2, is crucial for the maturation and activation of dual oxidase DUOX2, a member of the NADPH oxidase family. It enables DUOX2 to correctly migrate from the endoplasmic reticulum to the plasma membrane, and together they form a stable complex promoting hydrogen peroxide (H2O2) generation in thyroid hormone synthesis [2].
Mutations in DUOXA2 lead to defects in the function of the DUOX2 protein, causing inherited congenital hypothyroidism (CH). In a study of 377 CH cases, DUOXA2 was prominent in thyroid dysgenesis (TD) cases (18.75%) [1]. A case report described a girl with CH having a homozygous nonsense DUOXA2 mutation (p.Tyr138*), and her apparently unaffected brother also had the identical homozygous mutation, suggesting a broader phenotypic spectrum of DUOXA2 mutations [3]. In a cross-sectional study of borderline CH cases, 12% of patients harbored likely pathogenic mutations in DUOXA2, including novel gene variants [4]. In 21 Chinese Han patients with thyroid dyshormonogenesis, 3 rare non-polymorphic variants in DUOXA2 were found [5]. In a study of 110 Chinese patients with primary CH, autosomal recessive inheritance of CH caused by mutations in DUOXA2 was confirmed [6].
In conclusion, DUOXA2 is essential for the proper function of DUOX2 in thyroid hormone synthesis. Studies on DUOXA2 mutations in patients with CH, especially those with TD, have expanded our understanding of the role of DUOXA2 in CH pathogenesis, highlighting its significance in the genetic etiology of this common pediatric metabolic disorder.
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. Du, Jiani, Yang, Yanling, Wei, Ding, Cheng, Chen, Zhai, Xiaoyan. 2024. The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism. In Annals of medicine, 57, 2440121. doi:10.1080/07853890.2024.2440121. https://pubmed.ncbi.nlm.nih.gov/39673194/
3. Sugisawa, Chiho, Higuchi, Shinji, Takagi, Masaki, Hasegawa, Tomonobu, Narumi, Satoshi. 2017. Homozygous DUOXA2 mutation (p.Tyr138*) in a girl with congenital hypothyroidism and her apparently unaffected brother: Case report and review of the literature. In Endocrine journal, 64, 807-812. doi:10.1507/endocrj.EJ16-0564. https://pubmed.ncbi.nlm.nih.gov/28626131/
4. Peters, Catherine, Nicholas, Adeline K, Schoenmakers, Erik, Fugazzola, Laura, Schoenmakers, Nadia. . DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. In Thyroid : official journal of the American Thyroid Association, 29, 790-801. doi:10.1089/thy.2018.0587. https://pubmed.ncbi.nlm.nih.gov/31044655/
5. Chen, Xi, Kong, Xiaohong, Zhu, Jie, Ding, Guifeng, Wang, Huijuan. 2018. Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. In International journal of endocrinology, 2018, 8986475. doi:10.1155/2018/8986475. https://pubmed.ncbi.nlm.nih.gov/30154845/
6. Sun, Feng, Zhang, Jun-Xiu, Yang, Chang-Yi, Song, Ke-Yi, Song, Huai-Dong. 2018. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes. In European journal of endocrinology, 178, 623-633. doi:10.1530/EJE-17-1017. https://pubmed.ncbi.nlm.nih.gov/29650690/
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