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Mouse models to study inner ear development and hereditary hearing loss
 

Summary: Mouse models to study inner ear development
and hereditary hearing loss
LILACH M. FRIEDMAN, AMIEL A. DROR and KAREN B. AVRAHAM*
Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
ABSTRACT Hereditary sensorineural hearing loss, derived from inner ear defects, is the most
common hereditary disability with a prevalence of 1 in 1000 children, although it can be present
in up to 15% of births in isolated communities. The mouse serves as an ideal animal model to
identify new deafness-related genes and to study their roles in vivo. This review describes mouse
models for genes that have been linked with hearing impairment (HI) in humans. Mutations in
several groups of genes have been linked with HI in both mice and humans. Mutant mice have been
instrumental in elucidating the function and mechanisms of the inner ear. For example, the roles
of collagens and tectorins in the tectorial membrane, as well as the necessity of intact links
between the hair cell projections, stereocilia and kinocilia, have been discovered in mice. Accurate
endolymph composition and the proteins which participate in its production were found to be
crucial for inner ear function, as well as several motor proteins such as prestin and myosins. Two
systematic projects, KOMP and EUCOMM, which are currently being carried out to create knock-
out and conditional mutants for every gene in the mouse genome, promise that many additional
deafness-related genes will be identified in the next years, providing models for all forms of human
deafness.
KEY WORDS: mouse, inner ear development, deafness gene, hearing

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine