C57BL/6JCya-Iqcb1em1flox/Cya
Common Name:
Iqcb1-flox
Product ID:
S-CKO-18248
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
Quantity
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Basic Information
Strain Name
Iqcb1-flox
Strain ID
CKOCMP-320299-Iqcb1-B6J-VB
Gene Name
Product ID
S-CKO-18248
Gene Alias
6820449I09Rik; NPHP5
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
16
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Iqcb1em1flox/Cya mice (Catalog S-CKO-18248) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000023535
NCBI RefSeq
NM_177128
Target Region
Exon 5
Size of Effective Region
~0.6 kb
Detailed Document
Overview of Gene Research
Iqcb1, also known as NPHP5 (nephrocystin-5), is a gene encoding a ciliary protein. It plays a crucial role in ciliary function, especially in the formation of photoreceptor outer segments in the retina [7]. Mutations in Iqcb1 are associated with ciliopathies, including Senior-Løken syndrome characterized by Leber congenital amaurosis and nephronophthisis, as well as isolated retinopathy [1,2,3,4,5,6,7].
In Nphp5-knockout mice, absence of scotopic and photopic electroretinogram responses was observed, resembling Leber congenital amaurosis. There was abnormal accumulation of outer segment transmembrane protein in the endoplasmic reticulum, and the transition zones of photoreceptors were aberrant with reduced diameter. Photoreceptor degeneration was complete at 1 month of age, but was significantly delayed in cone-only retina (Nphp5 -/-;Nrl -/-) [7]. In in vitro studies using patient-derived cells, mutations in IQCB1 led to aberrantly elongated ciliary axonemes in fibroblasts and RPE, impaired development of outer segment structures in retinal organoids, and mislocalization of visual pigments, which could be rescued by AAV-mediated IQCB1 gene augmentation therapy [4].
In conclusion, Iqcb1 is essential for photoreceptor outer segment formation and normal ciliary function in the retina. The study of Iqcb1 knockout mouse models and patient-derived cells has provided insights into the pathogenesis of ciliopathies such as Senior-Løken syndrome and Leber congenital amaurosis, offering potential directions for therapeutic interventions [4,7].
References:
1. Sen, Sagnik, Fabozzi, Lorenzo, Fujinami, Kaoru, Georgiou, Michalis, Michaelides, Michel. 2024. IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History. In American journal of ophthalmology, 264, 205-215. doi:10.1016/j.ajo.2024.03.009. https://pubmed.ncbi.nlm.nih.gov/38522724/
2. Wang, Junwen, Li, Shiqiang, Jiang, Yi, Wang, Panfeng, Zhang, Qingjiong. 2023. Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4. In American journal of ophthalmology, 252, 188-204. doi:10.1016/j.ajo.2023.03.025. https://pubmed.ncbi.nlm.nih.gov/36990420/
3. Estrada-Cuzcano, Alejandro, Koenekoop, Robert K, Coppieters, Frauke, Cremers, Frans P M, den Hollander, Anneke I. 2011. IQCB1 mutations in patients with leber congenital amaurosis. In Investigative ophthalmology & visual science, 52, 834-9. doi:10.1167/iovs.10-5221. https://pubmed.ncbi.nlm.nih.gov/20881296/
4. Kruczek, Kamil, Qu, Zepeng, Welby, Emily, Brooks, Brian P, Swaroop, Anand. 2022. In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells. In Stem cell reports, 17, 2172-2186. doi:10.1016/j.stemcr.2022.08.006. https://pubmed.ncbi.nlm.nih.gov/36084637/
5. Yu, Pei-Hua, Kuo, Yuh-Ren, Altmüller, Janine, Hwang, Daw-Yang. 2018. Senior-Løken syndrome with IQCB1 mutation in Taiwan. In The Kaohsiung journal of medical sciences, 34, 588-589. doi:10.1016/j.kjms.2018.03.010. https://pubmed.ncbi.nlm.nih.gov/30309488/
6. Vincent, A, AlAli, A, MacDonald, H, VandenHoven, C, Héon, E. 2017. Specific retinal phenotype in early IQCB1-related disease. In Eye (London, England), 32, 646-651. doi:10.1038/eye.2017.283. https://pubmed.ncbi.nlm.nih.gov/29219953/
7. Ronquillo, Cecinio C, Hanke-Gogokhia, Christin, Revelo, Monica P, Jiang, Li, Baehr, Wolfgang. 2016. Ciliopathy-associated IQCB1/NPHP5 protein is required for mouse photoreceptor outer segment formation. In FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 30, 3400-3412. doi:. https://pubmed.ncbi.nlm.nih.gov/27328943/
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