Iqcb1-KO Mouse
Common Name
Iqcb1-KO
제품 ID
S-KO-17196
Backgroud
C57BL/6JCya
품종 계통계통 ID
KOCMP-320299-Iqcb1-B6J-VA
상태
이 마우스 계통을 논문에서 사용할 경우, “Iqcb1-KO Mouse (카탈로그 번호 S-KO-17196)은 Cyagen에서 구입하였습니다.”라고 명시해 주시기 바랍니다.
구매 가능한 제품 종류
연령
Genotype
성별
수량
표준 제공 조건은 최소 3마리의 이형접합(heterozygous) 보균자를 보장합니다. 동형접합(homozygous) 보균자 및/또는 특정 성별에 대한 브리딩 서비스도 제공됩니다.
기본 정보
품종 계통
Iqcb1-KO
품종 계통계통 ID
KOCMP-320299-Iqcb1-B6J-VA
유전자명
제품 ID
S-KO-17196
유전자 별칭
NPHP5, 6820449I09Rik
배경
C57BL/6JCya
NCBI ID
변형 내용
Conventional knockout
염색체
Chr 16
Phenotype
Datasheet
적용 분야
--
품종 계통 설명
Ensembl 전사체 ID
ENSMUST00000023535
NCBI 전사체 ID
NM_177128
타겟 영역
Exon 5
유효 영역 크기
~0.1 kb
유전자 연구 개요
IQCB1, also known as NPHP5, encodes the ciliary protein nephrocystin 5. It is involved in ciliopathy-related processes and is crucial for ciliary function. The protein interacts with other ciliopathy-associated proteins like CEP290 and EPB41L5, regulating the composition of the ciliary base and centrosome [4]. It plays a significant role in multiple biological processes, with its dysfunction linked to various diseases.
In a Nphp5-knockout mouse model, absence of scotopic and photopic electroretinogram responses was observed, resembling Leber congenital amaurosis. There was outer segment transmembrane protein accumulation in the endoplasmic reticulum, and aberrant transition zones of reduced diameter in photoreceptors. The knockout mice also had complete photoreceptor degeneration by 1 month of age, highlighting the essential role of IQCB1 in photoreceptor outer segment formation [9]. In human studies, IQCB1 mutations are associated with Leber congenital amaurosis, Senior-Loken syndrome (characterized by nephronophthisis and retinal degeneration), and non-syndromic IQCB1-retinopathy. In liver cancer, elevated IQCB1 expression is related to poor prognosis, and it shows correlations with markers like MKI67, HBV, HCV, and AFP, as well as associations with immune infiltration and checkpoint mechanisms [1,2,3,5,6,7,8].
In conclusion, IQCB1 is essential for ciliary function and photoreceptor outer segment formation. Its knockout models have been instrumental in revealing its role in retinopathies. In addition, its associations in liver cancer suggest its potential as a diagnostic and prognostic marker. Research on IQCB1 provides insights into the mechanisms of ciliopathies and liver cancer, potentially guiding future therapeutic strategies.
References:
1. Han, Dongmei, Ling, Bin, Wu, Caihong, Jin, Hao. 2024. The role of IQCB1 in liver cancer: a bioinformatics analysis. In Translational cancer research, 13, 5021-5036. doi:10.21037/tcr-24-110. https://pubmed.ncbi.nlm.nih.gov/39430824/
2. 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/
3. 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/
4. Yu, Tiffany, Matsuda, Miho. 2020. Epb41l5 interacts with Iqcb1 and regulates ciliary function in zebrafish embryos. In Journal of cell science, 133, . doi:10.1242/jcs.240648. https://pubmed.ncbi.nlm.nih.gov/32501287/
5. 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/
6. 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/
7. 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/
8. 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/
9. 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/
품질 관리 기준
정자 검사
동결 보존 전: 정자 농도 측정 및 정자 생존율 평가.
동결 보존 후: 각 배치에서 동결 보존된 정자 바이알 1개를 선택하여 체외수정(in vitro fertilization)에 사용합니다.
Environmental Standards:
SPFAvailable Region:
GlobalSource:
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