Ontology highlight
ABSTRACT:
SUBMITTER: Tian C
PROVIDER: S-EPMC2907663 | biostudies-literature | 2010 Apr
REPOSITORIES: biostudies-literature
Tian Cong C Liu Xue Z XZ Han Fengchan F Yu Heping H Longo-Guess Chantal C Yang Bin B Lu Changjun C Yan Denise D Zheng Qing Y QY
Brain research 20100306
Usher syndrome (USH) is the most common form of deaf-blindness in humans. Molecular characterization revealed that the USH gene products form a macromolecular protein network in hair cells of the inner ear and in photoreceptor cells of the retina via binding to PDZ domains in the scaffold protein harmonin encoded by the Ush1c gene in mice and humans. Although several mouse mutants for the Ush1c gene have been described, we generated a targeted null mutation Ush1c mouse model in which the first f ...[more]