Gjb2, also known as Gap junction protein beta-2, encodes the transmembrane protein connexin 26 (Cx26). Gap junctions formed by connexins play crucial roles in intercellular communication, allowing the exchange of small molecules and ions, which is essential for normal cellular function and tissue homeostasis [1].

Mutations in Gjb2 are the most common genetic cause of non-syndromic hereditary deafness in humans, especially the 35delG and 235delC mutations [2]. Through the construction of heterozygous Gjb2+/35delG and Gjb2+/235delC mutant mice, and a homozygous mutant mouse model Gjb235delG/35delG, it was demonstrated that Gjb2 35delG disrupts the function and formation of intercellular gap junction channels of the cochlea rather than affecting the survival and function of hair cells. These mouse models are ideal for understanding the pathogenic mechanism of DFNB1A-related hereditary deafness [2].

In conclusion, Gjb2 is essential for normal cochlear function through its role in forming intercellular gap junction channels. The Gjb2-related mouse models have significantly contributed to understanding the pathogenesis of Gjb2-associated hearing loss, providing a basis for developing potential treatment strategies for this disease.