Cavin1-flox Mouse
一般名
Cavin1-flox
製品ID
S-CKO-04617
背景情報
C57BL/6JCya
系統ID
CKOCMP-19285-Cavin1-B6J-VA
状況
このマウス系統を論文で使用する場合は、「Cavin1-flox Mouse（カタログ番号S-CKO-04617）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
Cavin1-flox
系統ID
CKOCMP-19285-Cavin1-B6J-VA
遺伝子名
製品ID
S-CKO-04617
遺伝子別名
Ptrf, Cavin, Cav-p60, 2310075E07Rik
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conditional knockout
染色体
Chr 11
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
ENSMUST00000060792
NCBIトランスクリプトID
NM_008986
ターゲット領域
Exon 2
有効領域の大きさ
~2.9 kb
遺伝子研究の概要
Cavin1, also known as caveolae-associated protein 1 and encoded by the polymerase I and transcript release factor (PTRF) gene, is essential for caveolae biogenesis. It functions in processes like regulating membrane tension, signaling cascades, and lipid sorting. Caveolae are small plasma membrane invaginations, and Cavin1's interaction with caveolin 1 is crucial for their formation [3,4,5].
In a study on drug-induced QT prolongation (diLQT), Cavin1 was found to regulate the susceptibility to diLQT. CAVIN1 expression levels in patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPS-CMs) affected the response to hERG blockers like sotalol. Higher CAVIN1 expression in more sensitive iPS-CMs led to hERG channel translocation from the membrane to the cytoskeleton-associated fractions upon sotalol treatment, reducing the delayed-rectifier potassium current (IKr) and prolonging the late repolarization phase [1].
In glioblastoma, the small-molecular inhibitor EPIC-1042 interrupted the interaction between PTRF/Cavin1 and caveolin-1, reducing small extracellular vesicles (sEVs) secretion to decrease temozolomide (TMZ) efflux and inducing PARP1 autophagic degradation, enhancing TMZ efficacy [2].
In congenital generalized lipodystrophy type 4 (CGL4), a novel pathogenic mutation of the CAVIN1/PTRF gene was found in two siblings. Cavin-1 dysfunction led to a clinical phenotype characterized by absence of adipose tissue and muscular dystrophy [3].
Cavin1 deficiency in C57BL/6J mice caused neonatal death due to disorder of hepatic glycogen metabolism, as it impaired fenestration in liver sinusoidal endothelial cells (LSECs) by inhibiting the RhoA-Rho-associated protein kinase 2-LIM domain kinase-Cofilin signaling pathway [6].
In conclusion, Cavin1 plays diverse and crucial roles in multiple biological processes and disease conditions. Its function in caveolae biogenesis has far-reaching impacts on various cellular functions. Studies using genetic models, such as gene-knockout mouse models in the case of Cavin1 deficiency, have revealed its significance in diseases like diLQT, glioblastoma, CGL4, and neonatal hypoglycemia related to hepatic glycogen metabolism disorder.
References：
1. Al Sayed, Zeina R, Pereira, Céline, Le Borgne, Rémi, Trégouët, David-Alexandre, Hulot, Jean-Sébastien. 2024. CAVIN1-Mediated hERG Dynamics: A Novel Mechanism Underlying the Interindividual Variability in Drug-Induced Long QT. In Circulation, 150, 563-576. doi:10.1161/CIRCULATIONAHA.123.063917. https://pubmed.ncbi.nlm.nih.gov/38682330/
2. Hong, Biao, Yang, Eryan, Su, Dongyuan, Cui, Longtao, Kang, Chunsheng. . EPIC-1042 as a potent PTRF/Cavin1-caveolin-1 interaction inhibitor to induce PARP1 autophagic degradation and suppress temozolomide efflux for glioblastoma. In Neuro-oncology, 26, 100-114. doi:10.1093/neuonc/noad159. https://pubmed.ncbi.nlm.nih.gov/37651725/
3. Mancioppi, Valentina, Daffara, Tommaso, Romanisio, Martina, Giordano, Mara, Prodam, Flavia. 2023. A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature. In Frontiers in endocrinology, 14, 1212729. doi:10.3389/fendo.2023.1212729. https://pubmed.ncbi.nlm.nih.gov/37501786/
4. Liu, Kang-Cheng, Pace, Hudson, Larsson, Elin, Hubert, Madlen, Lundmark, Richard. 2022. Membrane insertion mechanism of the caveola coat protein Cavin1. In Proceedings of the National Academy of Sciences of the United States of America, 119, e2202295119. doi:10.1073/pnas.2202295119. https://pubmed.ncbi.nlm.nih.gov/35696574/
5. Tillu, Vikas A, Rae, James, Gao, Ya, Parton, Robert G, Collins, Brett M. 2021. Cavin1 intrinsically disordered domains are essential for fuzzy electrostatic interactions and caveola formation. In Nature communications, 12, 931. doi:10.1038/s41467-021-21035-4. https://pubmed.ncbi.nlm.nih.gov/33568658/
6. Wei, Zhuang, Lei, Jigang, Shen, Feng, Liao, Kan, Hong, Shangyu. 2020. Cavin1 Deficiency Causes Disorder of Hepatic Glycogen Metabolism and Neonatal Death by Impacting Fenestrations in Liver Sinusoidal Endothelial Cells. In Advanced science (Weinheim, Baden-Wurttemberg, Germany), 7, 2000963. doi:10.1002/advs.202000963. https://pubmed.ncbi.nlm.nih.gov/33042738/
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。