ABSTRACT
ENU mutagenesis is an efficient method to identify new animal models of ocular disease. The new alleles described herein will be a useful resource to further examine the role of the affected molecules and the effects of their disruption within the retina.
Subject(s)
Cyclic Nucleotide Phosphodiesterases, Type 6/genetics , Disease Models, Animal , Eye Proteins/genetics , Mice, Inbred C57BL , Retinal Degeneration/genetics , Rhodopsin/genetics , Alkylating Agents/toxicity , Animals , Chromosome Mapping/methods , DNA Mutational Analysis/methods , Ethylnitrosourea/toxicity , Humans , Mice , Mutagenesis/physiology , Retinal Degeneration/chemically induced , Translational Research, Biomedical/methodsABSTRACT
In this review, we focus primarily on information obtained by studying mouse models of heritable ocular diseases. These models have proven to be important in advancing our understanding of disease etiology and of pathological consequences of heritable disorders. Careful phenotypic analyses of these models have lead to hypotheses regarding the function of various molecules as well as the mechanisms underlying the observed pathologies. Specific examples of the utility of mouse models in vision research are discussed.