C57BL/6JCya-Dnah11em1/Cya
Common Name:
Dnah11-KO
Product ID:
S-KO-17584
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Dnah11-KO
Strain ID
KOCMP-13411-Dnah11-B6J-VB
Gene Name
Product ID
S-KO-17584
Gene Alias
Dnahc11; avc4; b2b1203Clo; b2b1279Clo; b2b1289Clo; b2b1727Clo; b2b598Clo; iv; lrd
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
12
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnah11em1/Cya mice (Catalog S-KO-17584) 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 for cilia and is responsible for the outer dynein arm. Dynein heavy chains are motor proteins of the outer dynein arms and are crucial for ciliary motility. This gene is involved in the assembly of respiratory cilia and sperm flagella, and thus plays an important role in related biological processes [2,4,5].
Compound heterozygous variants in DNAH11 were found to cause heterotaxy and congenital heart disease in a Chinese family, broadening the variant spectrum of this gene [1]. In infertile men, seven novel variants in DNAH11 were identified in asthenoteratozoospermia subjects, leading to absence of DNAH11 proteins and sperm flagella ultrastructure defects [2]. Also, DNAH11 variants were significantly associated with congenital heart disease and heterotaxy syndrome, with compound heterozygous variants potentially being a common genetic cause [3]. Moreover, a novel homozygous nonsense variant in DNAH11 was reported in a boy with primary ciliary dyskinesia and situs inversus [5].
In conclusion, DNAH11 is essential for ciliary function, with its variants being associated with multiple diseases such as heterotaxy, congenital heart disease, male infertility, and primary ciliary dyskinesia. Research on DNAH11 provides insights into the genetic basis of these conditions, potentially guiding genetic counseling and offering new perspectives for understanding the mechanisms underlying these diseases.
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/
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