Iqcb1-KO Mouse
一般名
Iqcb1-KO
製品ID
S-KO-17196
背景情報
C57BL/6JCya
系統ID
KOCMP-320299-Iqcb1-B6J-VA
状況
このマウス系統を論文で使用する場合は、「Iqcb1-KO Mouse（カタログ番号S-KO-17196）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
標準的な配送方法では、少なくとも3匹のヘテロ接合体キャリアを保証しています。ホモ接合体キャリアや指定された性別の個体の繁殖サービスも利用可能です。
基本情報
系統名
Iqcb1-KO
系統ID
KOCMP-320299-Iqcb1-B6J-VA
遺伝子名
製品ID
S-KO-17196
遺伝子別名
NPHP5, 6820449I09Rik
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conventional knockout
染色体
Chr 16
表現型
アプリケーション
--
さらに
系統詳細
EnsemblトランスクリプトID
ENSMUST00000023535
NCBIトランスクリプトID
NM_177128
ターゲット領域
Exon 5
有効領域の大きさ
~0.1 kb
遺伝子研究の概要
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/
品質管理基準
精子検査
凍結前の精子濃度を測定し、精子の生存能力の判定します。
凍結後の精子では、各バッチから1本の凍結保存された精子を選び出し、体外受精に使用します。
環境基準:
SPF対応地域:
グローバル由来:
Cyagenお問い合わせ
カスタムの動物モデルに関するご相談は、下記のフォームにご記入いただき、ご連絡いただくか見積もりをご依頼ください。
Cyagenはお客様のプライバシーを大変重視しています。当社の最新の製品や情報をお届けしたいと思っています。お客様の設定をご確認ください。
これらの配信はいつでも解除できます。配信停止方法およびデータ保護の詳細は プライバシーポリシー をご確認ください。
以下のボタンをクリックすることで、このフォームにご入力いただいた個人情報をCyagenが保存・処理し、ご要望のコンテンツを提供することに同意されたことになります。