C57BL/6JCya-Dnah11em1flox/Cya
Common Name:
Dnah11-flox
Product ID:
S-CKO-02062
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Dnah11-flox
Strain ID
CKOCMP-13411-Dnah11-B6J-VA
Gene Name
Product ID
S-CKO-02062
Gene Alias
Dnahc11; avc4; b2b1203Clo; b2b1279Clo; b2b1289Clo; b2b1727Clo; b2b598Clo; iv; lrd
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
12
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnah11em1flox/Cya mice (Catalog S-CKO-02062) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000084806
NCBI RefSeq
NM_010060
Target Region
Exon 3
Size of Effective Region
~1.5 kb
Detailed Document
Overview of Gene Research
DNAH11, or dynein axonemal heavy chain 11, encodes a protein that is part of the outer dynein arm of cilia. Dynein heavy chains are motor proteins essential for ciliary motility. The gene is involved in the assembly of respiratory cilia and sperm flagella, and thus plays a significant role in mucociliary clearance and sperm function [2,4,5,6].
Compound heterozygous variants in DNAH11 have been associated with heterotaxy and congenital heart disease, suggesting these variants might be pathogenic alterations for these conditions [1]. Also, bi-allelic variants in DNAH11 are linked to male infertility, leading to aberrant sperm flagella assembly and asthenoteratozoospermia [2]. Moreover, DNAH11 variants are significantly associated with congenital heart disease and heterotaxy syndrome, and the gene shows a relatively high mutation rate in patients with these conditions [3]. Additionally, DNAH11 polymorphisms are associated with asthenozoospermia in Chinese patients [4]. Mutations in DNAH11 are a common cause of primary ciliary dyskinesia with normal ciliary ultrastructure and hyperkinetic ciliary beating, and result in a subtle outer dynein arm defect in only the proximal region of respiratory cilia [6].
In conclusion, DNAH11 is crucial for ciliary function, with its variants being associated with various diseases including congenital heart disease, heterotaxy, and male infertility. Studies on DNAH11 variants help in understanding the mechanisms underlying these diseases and can potentially guide genetic counseling and treatment strategies.
References:
1. Xia, Hong, Huang, Xiangjun, Deng, Sheng, Yuan, Lamei, Deng, Hao. 2021. DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease. In PloS one, 16, e0252786. doi:10.1371/journal.pone.0252786. https://pubmed.ncbi.nlm.nih.gov/34133440/
2. Guo, Senzhao, Tang, Dongdong, Chen, Yuge, Sha, Yanwei, Lv, Mingrong. 2024. Association of novel DNAH11 variants with asthenoteratozoospermia lead to male infertility. In Human genomics, 18, 97. doi:10.1186/s40246-024-00658-w. https://pubmed.ncbi.nlm.nih.gov/39256880/
3. Liu, Sida, Chen, Weicheng, Zhan, Yongkun, Sheng, Wei, Huang, Guoying. 2019. DNAH11 variants and its association with congenital heart disease and heterotaxy syndrome. In Scientific reports, 9, 6683. doi:10.1038/s41598-019-43109-6. https://pubmed.ncbi.nlm.nih.gov/31040315/
4. Zhu, Dongliang, Zhang, Hongguo, Wang, Ruixue, Liu, Ruizhi, Zhang, Guirong. 2019. Association of DNAH11 gene polymorphisms with asthenozoospermia in Northeast Chinese patients. In Bioscience reports, 39, . doi:10.1042/BSR20181450. https://pubmed.ncbi.nlm.nih.gov/31160482/
5. Sodeifian, Fatemeh, Samieefar, Noosha, Shahkarami, Sepideh, Babaie, Delara, Rezaei, Nima. 2023. DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature. In Case reports in medicine, 2023, 8436715. doi:10.1155/2023/8436715. https://pubmed.ncbi.nlm.nih.gov/37153356/
6. Dougherty, Gerard W, Loges, Niki T, Klinkenbusch, Judith A, Dworniczak, Bernd, Omran, Heymut. . DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes. In American journal of respiratory cell and molecular biology, 55, 213-24. doi:10.1165/rcmb.2015-0353OC. https://pubmed.ncbi.nlm.nih.gov/26909801/
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