huUSH2A(E10-15)-c.2299delG Mouse

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]. Exon 13 of the USH2A gene harbors a hotspot for pathogenic mutations associated with USH, including two common mutations, c.2299delG and c.2276G>T, which are the subject of several therapeutic investigations. The c.2299delG mutation in exon 13 causes frameshift and premature termination codons. This mutation produces 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.2299delG mice are obtained by introducing the c.2299delG 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.