C57BL/6JCya-Dnai1em1/Cya
Common Name:
Dnai1-KO
Product ID:
S-KO-18958
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Dnai1-KO
Strain ID
KOCMP-68922-Dnai1-B6J-VB
Gene Name
Product ID
S-KO-18958
Gene Alias
1110066F04Rik; Dnaic1; b2b1526Clo
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
4
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnai1em1/Cya mice (Catalog S-KO-18958) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000102963
NCBI RefSeq
NM_175138
Target Region
Exon 10
Size of Effective Region
~0.1 kb
Detailed Document
Overview of Gene Research
Dnai1, or dynein axonemal intermediate chain 1, is a key structural element of the ciliary outer dynein arm (ODA). It is crucial for normal ciliary activity and the subsequent clearance of mucus from the conducting airways in humans [2]. Mutations in DNAI1 can lead to primary ciliary dyskinesia (PCD), an autosomal recessive disorder [2].
In research, DNAI1 mutations were found in 2%-10% of PCD patients in different studies [1,4]. For example, in one cohort of 104 unrelated PCD patients, mutations on both alleles of gene DNAI1 were identified in only 2% [1]. In another study of 179 families with PCD, 10% of patients were estimated to harbor DNAI1 mutations, with most occurring as a common founder IVS1+2_3insT or in exons 13, 16, and 17 [4]. A PCD pig model with a disrupted DNAI1 gene was developed using CRISPR-Cas9. The PCD pig airway cilia lacked the outer dynein arm, had impaired beating, and mucociliary transport was impaired. Neonatal PCD pigs developed neonatal respiratory distress, and older ones had worsening airway mucus obstruction, inflammation, and bacterial infection, closely mimicking the human PCD disease phenotype [3].
In conclusion, DNAI1 is essential for normal ciliary function and mucus clearance in the airways. The study of DNAI1-related gene knockout models, such as the PCD pig model, helps to understand the pathophysiology of PCD and potentially develop effective treatments for this debilitating respiratory disease.
References:
1. Failly, Mike, Saitta, Alexandra, Muñoz, Analia, Bartoloni, Lucia, Blouin, Jean-Louis. 2008. DNAI1 mutations explain only 2% of primary ciliary dykinesia. In Respiration; international review of thoracic diseases, 76, 198-204. doi:10.1159/000128567. https://pubmed.ncbi.nlm.nih.gov/18434704/
2. Hennig, Mirko, Bhattacharjee, Rumpa B, Agarwal, Ishita, Lockhart, David J, Wustman, Brandon A. 2025. Inhaled DNAI1 mRNA therapy for treatment of primary ciliary dyskinesia. In Proceedings of the National Academy of Sciences of the United States of America, 122, e2421915122. doi:10.1073/pnas.2421915122. https://pubmed.ncbi.nlm.nih.gov/40294271/
3. Abou Alaiwa, Mahmoud A, Hilkin, Brie M, Price, Margaret P, Welsh, Michael J, Stoltz, David A. 2024. Development and Initial Characterization of Pigs with DNAI1 Mutations and Primary Ciliary Dyskinesia. In bioRxiv : the preprint server for biology, , . doi:10.1101/2024.05.22.594822. https://pubmed.ncbi.nlm.nih.gov/39229081/
4. Zariwala, Maimoona A, Leigh, Margaret W, Ceppa, Franck, Amselem, Serge, Knowles, Michael R. 2006. Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. In American journal of respiratory and critical care medicine, 174, 858-66. doi:. https://pubmed.ncbi.nlm.nih.gov/16858015/
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