Rom1^Rgsc1156
Chemically induced Allele Detail

Summary

• Symbol: Rom1^Rgsc1156
• Name: rod outer segment membrane protein 1; RIKEN Genomic Sciences Center (GSC), 1156
• MGI ID: MGI:3814074
• Synonyms: M101156, M-1156
• Gene: Rom1 Location: Chr19:8904755-8906720 bp, - strand Genetic Position: Chr19, 6.03 cM
• Alliance: Rom1^Rgsc1156 page

Mutation origin

• Strain of Origin: C57BL/6JJcl
• Project Collection: RIKEN GSC ENU Project

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Dominant

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Rom1 Mutation: 10 strains or lines available

References

• Original: J:133634 RIKEN BioResource Center/RIKEN Genomic Sciences Center, A Large Scale Mutagenesis Program in RIKEN GSC. PhenoSITE, World Wide Web (URL: http://www.brc.riken.jp/lab/gsc/mouse/). 2008
• All: 3 reference(s)