C57BL/6JCya-Dnai2em1flox/Cya
Common Name:
Dnai2-flox
Product ID:
S-CKO-19359
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Dnai2-flox
Strain ID
CKOCMP-432611-Dnai2-B6J-VB
Gene Name
Product ID
S-CKO-19359
Gene Alias
C030015H18Rik; Dnaic2; Gm728; b2b3405Clo
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnai2em1flox/Cya mice (Catalog S-CKO-19359) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000069325
NCBI RefSeq
NM_001034878
Target Region
Exon 3~4
Size of Effective Region
~2.2 kb
Detailed Document
Overview of Gene Research
DNAI2, also known as dynein axonemal intermediate chain 2, is a gene crucial for cilia and flagella movement as it is a component of the outer dynein arm (ODA) complexes in motile cilia. It is involved in biological processes like cilium movement and is associated with pathways relevant to ciliary function [1,2].
Mutations in DNAI2 have been found to cause primary ciliary dyskinesia (PCD). In a study, homozygous loss-of-function DNAI2 mutations in humans led to ODA defects, as seen by lack of DNAI2 protein expression and absence of ODA heavy chains DNAH5 and DNAH9 from ciliary axonemes [2]. In another study, a novel founder variant in DNAI2 was identified in consanguineous families with PCD, and TEM analysis showed lack of ODAs [3]. A newborn with PCD was found to have a novel 6.9 kb microdeletion in DNAI2, suggesting it as a causative factor for PCD and potentially a new genetic risk factor for normal pressure hydrocephalus (NPH) [4]. In a medaka fish PCD mutant, disruption of dnai2 led to reduced outer dynein arms in cilia and LR defects [5].
In conclusion, DNAI2 is essential for the proper assembly and function of the outer dynein arms in motile cilia. Studies on DNAI2 mutations in human and animal models have revealed its crucial role in PCD, highlighting its significance in understanding the molecular mechanisms underlying this disorder.
References:
1. Lv, Yanhua, Liu, Yanqing, Wang, Yueqiang, Pang, Qiuxiang, Hu, Guirong. 2021. CCDC114, DNAI2 and TOP2A involves in the effects of tibolone treatment on postmenopausal endometrium. In BMC women's health, 21, 240. doi:10.1186/s12905-020-01156-6. https://pubmed.ncbi.nlm.nih.gov/34116668/
2. Loges, Niki Tomas, Olbrich, Heike, Fenske, Lale, Mitchison, Hannah M, Omran, Heymut. 2008. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. In American journal of human genetics, 83, 547-58. doi:10.1016/j.ajhg.2008.10.001. https://pubmed.ncbi.nlm.nih.gov/18950741/
3. Al-Mutairi, Dalal A, Alsabah, Basel H, Alkhaledi, Bashar A, Pennekamp, Petra, Omran, Heymut. 2022. Identification of a novel founder variant in DNAI2 cause primary ciliary dyskinesia in five consanguineous families derived from a single tribe descendant of Arabian Peninsula. In Frontiers in genetics, 13, 1017280. doi:10.3389/fgene.2022.1017280. https://pubmed.ncbi.nlm.nih.gov/36303540/
4. Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Valetto, Angelo, Foresta, Carlo. 2020. A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report. In BMC medical genetics, 21, 220. doi:10.1186/s12881-020-01160-5. https://pubmed.ncbi.nlm.nih.gov/33167880/
5. Kobayashi, Daisuke, Iijima, Norio, Hagiwara, Haruo, Takeda, Hiroyuki, Yokoyama, Takahiko. 2010. Characterization of the medaka (Oryzias latipes) primary ciliary dyskinesia mutant, jaodori: Redundant and distinct roles of dynein axonemal intermediate chain 2 (dnai2) in motile cilia. In Developmental biology, 347, 62-70. doi:10.1016/j.ydbio.2010.08.008. https://pubmed.ncbi.nlm.nih.gov/20709053/
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