C57BL/6JCya-Dnai2em1/Cya
Common Name:
Dnai2-KO
Product ID:
S-KO-19284
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
Price:
Contact for Pricing
Basic Information
Strain Name
Dnai2-KO
Strain ID
KOCMP-432611-Dnai2-B6J-VB
Gene Name
Product ID
S-KO-19284
Gene Alias
C030015H18Rik; Dnaic2; Gm728; b2b3405Clo
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
11
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Dnai2em1/Cya mice (Catalog S-KO-19284) 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, short for dynein axonemal intermediate chain 2, is a gene encoding a protein that is crucial for the proper function of motile cilia and flagella. It is mainly involved in the cilium movement pathway [1]. Dysfunction in DNAI2 can lead to significant biological consequences, as cilia and flagella play vital roles in various physiological processes.
Mutations in DNAI2 have been found to cause primary ciliary dyskinesia (PCD), a genetically heterogeneous disorder. In four individuals from a family with PCD and outer dynein arm (ODA) defects, homozygous loss-of-function DNAI2 mutations were identified [2]. In five consanguineous families, a founder variant in DNAI2 led to PCD symptoms, with TEM analysis showing lack of ODAs [3]. A novel 6.9 kb microdeletion in DNAI2 was detected in a newborn with PCD, highlighting its role in causing the PCD phenotype [4]. In a medaka PCD mutant, disruption of dnai2 led to LR defects due to disrupted cilia motility in Kupffer's vesicle and severe reduction in outer dynein arms [5].
In conclusion, DNAI2 is essential for the normal function of motile cilia and flagella. Research on DNAI2 mutations and their effects in various genetic models has significantly contributed to our understanding of PCD. These studies have provided insights into the role of DNAI2 in maintaining the structure and function of cilia, which is crucial for normal physiological processes and the prevention of PCD-related diseases.
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