C57BL/6JCya-Dnah2em1/Cya
Common Name:
Dnah2-KO
Product ID:
S-KO-18911
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Dnah2-KO
Strain ID
KOCMP-327954-Dnah2-B6J-VA
Gene Name
Product ID
S-KO-18911
Gene Alias
2900022L05Rik; 4930564A01; D130094J20; D330014H01Rik; Dnahc2; Dnhd3
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnah2em1/Cya mice (Catalog S-KO-18911) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000108659
NCBI RefSeq
NM_001081330
Target Region
Exon 5
Size of Effective Region
~1.0 kb
Detailed Document
Overview of Gene Research
DNAH2, short for Dynein Axonemal Heavy Chain 2, is crucial for normal biological functions related to DNA repair and sperm flagella formation. In the context of DNA repair, it is associated with the homologous recombination repair pathway of Fanconi anemia (FA), a genetic disease [1]. In sperm, it is essential for the proper development and function of the flagella, being linked to sperm motility [2,3,4]. Genetic models, such as gene knockout mouse models, are valuable tools to study DNAH2's functions.
In gene-targeted mouse models, Dnah2-null males are infertile, with sperm cells showing multiple morphological abnormalities of the flagella (MMAF), including absent, short, bent, coiled, or irregular flagella [3]. The flagella ultrastructure is severely disorganized, and the absence of DNAH2 compromises the expression of other axonemal components like DNAH1 and RSPH3, suggesting its importance in multiple steps of sperm flagella formation [3]. In cell lines, down-regulation of DNAH2 in MMC-treated U2OS cells increases sensitivity to DNA inter-strand crosslinks, reduces FANCD2 enrichment at DNA damage sites, and influences FANCD2 ubiquitination modification, indicating its role in the FA homologous recombination repair pathway [1].
In conclusion, DNAH2 is essential for sperm flagella formation and plays a role in the homologous recombination repair pathway of FA. The use of Dnah2 knockout mouse models has significantly contributed to understanding its role in male infertility associated with MMAF and the pathogenesis of FA.
References:
1. Chang, Lixian, Gao, Xingjie, Wang, Yuxia, Yuan, Weiping, Zhu, Xiaofan. 2021. DNAH2 facilitates the homologous recombination repair of Fanconi anemia pathway through modulating FANCD2 ubiquitination. In Blood science (Baltimore, Md.), 3, 71-77. doi:10.1097/BS9.0000000000000076. https://pubmed.ncbi.nlm.nih.gov/35402838/
2. Li, Yang, Sha, Yanwei, Wang, Xiong, Tang, Yunge, Lu, Zhongxian. 2019. DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella. In Clinical genetics, 95, 590-600. doi:10.1111/cge.13525. https://pubmed.ncbi.nlm.nih.gov/30811583/
3. Hwang, Jae Yeon, Nawaz, Shoaib, Choi, Jungmin, Ahmad, Wasim, Chung, Jean-Ju. 2021. Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. In Frontiers in cell and developmental biology, 9, 662903. doi:10.3389/fcell.2021.662903. https://pubmed.ncbi.nlm.nih.gov/33968937/
4. Gao, Yang, Tian, Shixiong, Sha, Yanwei, Zhang, Feng, He, Xiaojin. 2021. Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella. In Reproductive biomedicine online, 42, 963-972. doi:10.1016/j.rbmo.2021.01.011. https://pubmed.ncbi.nlm.nih.gov/33771466/
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