C57BL/6JCya-Ift52em1flox/Cya
Common Name
Ift52-flox
Product ID
S-CKO-08703
Backgroud
C57BL/6JCya
Strain ID
CKOCMP-245866-Ift52-B6J-VA
Status
When using this mouse strain in a publication, please cite “Ift52-flox Mouse (Catalog S-CKO-08703) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Ift52-flox
Strain ID
CKOCMP-245866-Ift52-B6J-VA
Gene Name
Product ID
S-CKO-08703
Gene Alias
NGD5
Background
C57BL/6JCya
Gene Full Name
intraflagellar transport 52
Modification
Conditional knockout
NCBI ID
Phenotype
Chromosome
Chr 2 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000018002
NCBI Transcript ID
NM_172150
Target Region
Exon 4~5
Size of Effective Region
~2.2 kb
Overview of Gene Research
Ift52, a core component of the IFT-B complex, is crucial for ciliary transport. It facilitates the movement of cargoes along the ciliary axoneme and is involved in ciliopathies [6]. Cilia are microtubule-based organelles important for many physiological processes, and Ift52-mediated ciliary transport is essential for their proper function.
In Drosophila, deletion of Ift52 leads to severe defects in sensory cilia formation and related sensory behaviors, while it is dispensable for sperm flagella formation [1]. In human studies, mutations in Ift52 are associated with various ciliopathies. For example, in a patient with syndromic ciliopathy presenting mild short-rib thoracic dysplasia (SRTD) and Liber congenital amaurosis (LCA), a homozygous missense variation in Ift52 was identified, which could disrupt cilia elongation in vitro [2]. Different missense mutations in Ift52 are also related to SRTD or congenital anomaly of kidney and urinary tract (CAKUT), with the SRTD-associated mutation impairing IFT-B complex assembly and ciliary localization [3]. In C3H10T1/2 mouse mesenchymal stem cells, depletion of Ift52 using lentiviral shRNA interference disrupted the IFT-B anterograde trafficking machinery, impaired primary ciliogenesis, and blocked osteogenic differentiation [4]. Ift52 mutant cells in a case of short-rib polydactyly syndrome (SRPS) showed reduced synthesis of key anterograde complex members and disrupted ciliogenesis [5].
In conclusion, Ift52 is essential for sensory cilia formation, neuronal sensory function, and ciliary transport. Studies using gene-knockout models in Drosophila and cell-based models in humans have revealed its role in ciliopathies such as SRTD, LCA, and SRPS, as well as its importance in osteogenic differentiation. Understanding Ift52's functions provides insights into the mechanisms of cilia-related biological processes and associated diseases.
References：
1. Hou, Ya-Nan, Zhang, Ying-Ying, Wang, Ya-Ru, Luan, Yun-Xia, Wei, Qing. 2022. IFT52 plays an essential role in sensory cilia formation and neuronal sensory function in Drosophila. In Insect science, 30, 1081-1091. doi:10.1111/1744-7917.13140. https://pubmed.ncbi.nlm.nih.gov/36326027/
2. Chen, Xue, Wang, Xiaoguang, Jiang, Chao, Sheng, Xunlun, Zhao, Chen. . IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration. In Investigative ophthalmology & visual science, 59, 4581-4589. doi:10.1167/iovs.17-23351. https://pubmed.ncbi.nlm.nih.gov/30242358/
3. Dupont, Marie Alice, Humbert, Camille, Huber, Céline, Saunier, Sophie, Delous, Marion. . Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. In Human molecular genetics, 28, 2720-2737. doi:10.1093/hmg/ddz091. https://pubmed.ncbi.nlm.nih.gov/31042281/
4. Guleria, Vishal Singh, Parit, Rahul, Quadri, Neha, Das, Ranajit, Upadhyai, Priyanka. 2022. The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila. In Experimental cell research, 418, 113273. doi:10.1016/j.yexcr.2022.113273. https://pubmed.ncbi.nlm.nih.gov/35839863/
5. Zhang, Wenjuan, Taylor, S Paige, Nevarez, Lisette, Krakow, Deborah, Cohn, Daniel H. 2016. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. In Human molecular genetics, 25, 4012-4020. doi:10.1093/hmg/ddw241. https://pubmed.ncbi.nlm.nih.gov/27466190/
6. Udupa, Prajna, Ghosh, Debasish Kumar. . The emerging functions of intraflagellar transport 52 in ciliary transport and ciliopathies. In Traffic (Copenhagen, Denmark), 25, e12929. doi:10.1111/tra.12929. https://pubmed.ncbi.nlm.nih.gov/38272449/
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
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