Mfrp^tm1.1Rayy

A vector containing exons 1-2, a loxP site, exons 3-9 with a 1 bp insertion of cytosine at c.498_499 (c.498_499insC) in exon 5, an FRT site, loxP site, neomycin cassette, FRT site, and loxP site, and exons 10-12 replaced exons 1-12. The neomycin cassette was removed via flp-mediated recombination, leaving exons 3-9 with the mutation in exon 5 floxed. The homozygous c.498_499insC mutation has been identified in a family with hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and opti disc drusen, newly described as MFRP-associated retinopathy. Mice free of the Crb1rd8 mutation were used to generate the colony. (J:333981)