huUSH2A(E10-15)-c.2288_2289delCT Mouse
製品名
huUSH2A(E10-15)-c.2288_2289delCT Mouse
製品ID
C001984
系統名
C57BL/6JCya-Ush2atm5(hUSH2A*c.2288_2289delCT)/Cya
背景情報
C57BL/6JCya
状況
このマウス系統を論文で使用する場合は、「huUSH2A(E10-15)-c.2288_2289delCT Mouse（カタログ番号C001984）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
遺伝子名
遺伝子別名
US2, RP39, USH2, dJ1111A8.1
NCBI ID
染色体
Chr 1
MGI ID
さらに
系統詳細
The USH2A gene encodes Usherin, a protein featuring laminin EGF-like, pentraxin, and fibronectin type III domains, predominantly expressed in the basement membrane of the inner ear and retina. Usherin plays a critical role in developing hair cells in the inner ear, auditory signal transduction, and the maintenance of adhesion via interactions with fibronectin in the retinal basement membrane. Mutations in the USH2A gene disrupt the normal development and function of hair cells, impair fibronectin assembly, and compromise the adhesive properties of the retinal basement membrane, leading to hearing loss and RP symptoms. The USH2A gene is the primary causative gene for Usher syndrome Type II (USH2), with 75%–90% of USH2 cases linked to mutations in this gene [1]. The mutations mainly cause frameshift and premature termination codons, producing a protein that is 85% truncated compared to the normal transcript size, leading to the loss of Usherin protein function [2-5]. Currently, there are no effective therapies for Usher syndrome. Ongoing research focuses on elucidating the genetic mechanisms underlying the disorder and developing gene-based therapeutic strategies.
huUSH2A(E10-15)-c.2288_2289delCT mice are obtained by introducing the c.2288_2289delCT mutation into the exon 13 of the human USH2A gene in huUSH2A(E10-15) mice (Catalog Number: C001554) using gene editing technology. This model can be used to study the mechanisms and therapeutic approaches for diseases such as Usher syndrome Type II.
参考文献
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499-506.
Pendse ND, Lamas V, Pawlyk BS, Maeder ML, Chen ZY, Pierce EA, Liu Q. In Vivo Assessment of Potential Therapeutic Approaches for USH2A-Associated Diseases. Adv Exp Med Biol. 2019;1185:91-96. doi: 10.1007/978-3-030-27378-1_15. PMID: 31884594.
Yan D, Ouyang X, Patterson DM, Du LL, Jacobson SG, Liu XZ. Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. J Hum Genet. 2009 Dec;54(12):732-8. doi: 10.1038/jhg.2009.107. Epub 2009 Oct 30. PMID: 19881469; PMCID: PMC4511341.
Dreyer B, Tranebjaerg L, Brox V, Rosenberg T, Möller C, Beneyto M, Weston MD, Kimberling WJ, Cremers CW, Liu XZ, Nilssen O. A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet. 2001 Jul;69(1):228-34. doi: 10.1086/321269. Epub 2001 Jun 8. Erratum in: Am J Hum Genet 2001 Oct;69(4):922. PMID: 11402400; PMCID: PMC1226039.
Dulla K, Slijkerman R, van Diepen HC, Albert S, Dona M, Beumer W, Turunen JJ, Chan HL, Schulkens IA, Vorthoren L, den Besten C, Buil L, Schmidt I, Miao J, Venselaar H, Zang J, Neuhauss SCF, Peters T, Broekman S, Pennings R, Kremer H, Platenburg G, Adamson P, de Vrieze E, van Wijk E. Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations. Mol Ther. 2021 Aug 4;29(8):2441-2455. doi: 10.1016/j.ymthe.2021.04.024. Epub 2021 Apr 23.
系統作製戦略
The start codon (ATG) of the mouse Ush2a gene is located in exon 1, whereas the start codon (ATG) of the human USH2A gene resides in exon 2. Consequently, exons 10–15 of the human USH2A gene correspond to exons 9–14 of the mouse Ush2a gene. Exons 9 to 14 of the mouse Ush2a gene and their flanking sequences were replaced by exons 10 to 15 of the human USH2A gene and their respective flanking sequences. The c.2288_2289delCT mutation was introduced into exon 13 of human USH2A.
Figure 1. Schematic representation of the gene-editing strategy for the huUSH2A(E10-15) mouse model.
Figure 2. Diagram of the gene editing strategy for the generation of huUSH2A(E10-15)-c.2288_2289delCT mice.
適用分野
Investigation of the pathogenic mechanisms underlying Usher syndrome (USH) and preclinical evaluation of therapeutic drugs;
Development, screening, and preclinical evaluation of drugs targeting USH2A.
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。