Article
The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.
Human molecular genetics - 15 Dec 2010
Schütz Melanie, Scimemi Pietro, Majumder Paromita, De Siati Romolo Daniele, Crispino Giulia, Rodriguez Laura, Bortolozzi Mario, Santarelli Rosamaria, Seydel Anke, Sonntag Stephan, Ingham Neil, Steel Karen P, Willecke Klaus, Mammano Fabio
Abstract excerpt
Mutations in the GJB2 and GJB6 genes, respectively, coding for connexin26 (Cx26) and connexin30 (Cx30) proteins, are the most common cause for prelingual non-syndromic deafness in humans. In the inner ear, Cx26 and Cx30 are expressed in different non-sensory cell types, where they largely co-localize and may form heteromeric gap junction channels. Here, we describe the generation and characterization of a mouse...
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