Rom1^Rgsc1156

This mutation, discovered in an ENU mutagenesis screen, comprises a T to C transition in exon 1, at nucleotide position 1,195 (M96760, National Center for Biotechnology Information [NCBI]). It is predicted to result in replacement of tryptophan by arginine at amino acid position 182 of the translated protein (W182R), in the large intradiscal loop. Real-time quantitative PCR (qPCR) of total RNA from retinas of 8 week old mice shows that Rom1 transcripts are present in heterozygous retinas at ~70% and in homozygous mutant retinas at ~40% of wild-type levels. Western blot analysis of protein from 3 week old retinas reveals ~70% of wild type signal from heterozygous and ~26% from homozygous mutant retinas; immunohistochemical analysis shows ROM1 protein in the retinal outer segments to be somewhat diminished in heterozygous and barely detectable in homozygous 3 week old mutant mice. (J:158048)