C57BL/6JCya-Dnah2em1flox/Cya
Common Name:
Dnah2-flox
Product ID:
S-CKO-19147
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Dnah2-flox
Strain ID
CKOCMP-327954-Dnah2-B6J-VB
Gene Name
Product ID
S-CKO-19147
Gene Alias
2900022L05Rik; 4930564A01; D130094J20; D330014H01Rik; Dnahc2; Dnhd3
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnah2em1flox/Cya mice (Catalog S-CKO-19147) 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, also known as Dynein Axonemal Heavy Chain 2, is crucial for sperm flagella formation and may be involved in DNA repair pathways. In the context of sperm development, it is essential for multiple steps in the formation of sperm flagella, and its function is related to the normal motility of sperm. Additionally, it may play a role in the homologous recombination repair pathway of Fanconi anemia (FA) [1,2,3,4,5].
In human and mouse studies, genetic defects in DNAH2 underlie male infertility with multiple morphological abnormalities of the sperm flagella (MMAF). Dnah2 -null male mice are infertile, and their sperm cells display absent, short, bent, coiled, and/or irregular flagella, consistent with the MMAF phenotype. The absence of DNAH2 compromises the expression of other axonemal components such as DNAH1 and RSPH3, suggesting its importance in flagella development [3]. In U2OS cells, downregulation of DNAH2 increases cell sensitivity to DNA inter-strand crosslinks, reduces the enrichment of FANCD2 protein to DNA damage sites, and influences the ubiquitination modification level of FANCD2, indicating its potential role in the FA homologous recombination repair pathway [1].
In conclusion, DNAH2 is essential for sperm flagella formation, playing a significant role in male fertility. Its role in the homologous recombination repair pathway of FA also indicates its importance in DNA repair-related disease mechanisms. Studies using gene-knockout mouse models have been crucial in revealing these functions, providing insights into the molecular and cellular mechanisms of MMAF pathogenesis and FA-related DNA repair processes.
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/
5. Arora, Manvi, Mehta, Poonam, Sethi, Shruti, Samara, Mary, Singh, Rajender. 2024. Genetic etiological spectrum of sperm morphological abnormalities. In Journal of assisted reproduction and genetics, 41, 2877-2929. doi:10.1007/s10815-024-03274-8. https://pubmed.ncbi.nlm.nih.gov/39417902/
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