Mouse models for Usher syndrome 1B.

Photoreceptor cell degeneration was not detected in any of the shaker1 alleles, except for a small but significant loss of photoreceptor cells found in Myo7a(4626SB/4626SB) mice that were also homozygous mutant for Cdh23v. Perhaps greater and/or faster photoreceptor cell loss that is dependent on mutant Myo7a can be effected by having additional mutant USH1 genes in the genetic background. In any case, it is argued that shaker1 mice are a useful model for testing USH1B gene therapy, due to the presence of mutant phenotypes other than photoreceptor cell death.