Rpe65^tm1.1Jxma

Exon 13 was targeted for an A to G mutation changing codon 477 from GAT to GGT which results in a D477G substitution in the translated peptide. An FRT site flanked neomycin resistance gene cassette was inserted in intron 13. This neo cassette was removed through subsequent flp-mediated recombination. The mutation created in this allele is the equivalent of a dominant negative mutation found in some human retinitis pigmentosa (RP) patients. Transcript levels from this allele are comparable to wild-type, but peptide levels are around half in heterozygotes and less than a quarter in homozygotes compared to wild-type. (J:240179)