Abstract
Purpose: :
To characterize the genetics and phenotype of a new mouse mutant with a late and slow progressive retinal degenerationthat is associated with early onset fundus abnormalities.
Methods: :
We have identified a new mouse model with late and slow progressive retinal degeneration by screening mouse strains at National Eye Institute/NIH for genetic mouse models of human ocular disorders. We characterized the clinical effects of this mutation using serial electroretinography (ERG), fundus photography, and histology, and performed genetic analysis including linkage studies.
Results: :
This new mutation shows an autosomal dominant inheritance. Mice homozygous or heterozygous for the mutation show an abnormal fundus with retinal depigmentation spots or patches at 4 weeks of age; however, retinal function (by ERG) and structure (by histology) are normal at 4 weeks of age. Rod and cone ERG starts decreasing at 6 months of age in homozygous or heterozygous mutant mice comparing to the wild type control mice. Genetic analysis shows that this disorder is caused by an autosomal dominant mutation mapping to mouse Chromosome 2.
Conclusions: :
Late onset and slow progressive retinal function loss and retinal degeneration combined with our genetic data suggest that this is a new mutation not previously described in mouse. This provides a novel mouse model for the late onset retinal degeneration associated with the early fundus abnormalities.
Keywords: retinal degenerations: hereditary • gene mapping • genetics