ABSTRACT
The genetic analysis of mouse mutations has helped to identify several human deafness genes (Probst and Camper, 1999), including
PAX3
(responsible for WS1 and WS3),
MITF
(responsible for WS2),
MYO7A
(responsible for DFNB2, DFNA11, and USH1B),
MYO15
(responsible for DFNB3), and
POU4F3
(responsible for DFNA15). For example, the spontaneous mouse mutations shaker 1 (
sh1
) and shaker 2 (
sh2
) were instrumental in identifying two human genes responsible for four deafness syndromes. Both
sh1
and
sh2
are characterized by hyperactivity, head-shaking, and circling behaviors, and also are deaf due to neuroepithelial defects of the cochlea.
