Abstract
Purpose: :
A retinal detachment is a separation of the nerve tissue of the retina from the wall of the eye. When this separation occurs, the cells of the nerve tissue are isolated from their supplies of nourishment, will deteriorate, and eventually die. There is no natural occurring mouse model of retinal detachment available for vision research. Here we report the first mouse mutant with a retinal detachment named nm3342.
Methods: :
We have identified a new mouse model of a retinal detachment by screening mouse strains and stocks at The Jackson Laboratory for genetic mouse models of human ocular disorders. We characterized the clinical effects of this mutation using fundus photography, intraocular pressure (IOP) measurements, histology, serial electroretinography (ERG), and performed genetic analysis including linkage studies.
Results: :
nm3342 was found in ABJ/LeJ mice with a "star" shaped pattern in the retina in both eyes. Each "star" arm has a retinal blood vessel along this length; and it looks like the retina detaches and folds down along the vessels. If the mouse is held upside down the star pattern is lost and returns when upright. Retinal star shows by one month of age. All "star" mice get swollen eyes with age and some of them have a higher IOP. Histological slides show complete retinal detachment. After we moved the nm3342 to C57BL/6J (B6) genetic background to get rid of retinal degeneration 1 mutation (Pde6brd1), part retinal detachment occurs at about two months of age and the detachment area gets bigger with age. The B6-nm3342 mice have a normal ERG at two months of age and ERG responses are decrease with age. Our genetic analysis shows that the nm3342 is an autosomal recessive mutation and it is mapped to mouse Chromosome 2, the human homolog should be on 10p13 or 10p15.
Conclusions: :
It is clear that the nm3342 mutant is a reliable mouse model of retinal detachment ant it is a novel mouse model for retinal detachment research.
Keywords: gene mapping • retinal detachment • genetics