Rpe65^tm1.1Jxma
Targeted Allele Detail

Summary

• Symbol: Rpe65^tm1.1Jxma
• Name: retinal pigment epithelium 65; targeted mutation 1.1, Jian-xing Ma
• MGI ID: MGI:5883865
• Synonyms: D477G KI
• Gene: Rpe65 Location: Chr3:159304812-159330958 bp, + strand Genetic Position: Chr3, 82.52 cM, cytoband H4
• Alliance: Rpe65^tm1.1Jxma page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:240179
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129 x C57BL/6

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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)
• Inheritance: Dominant

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Rpe65 Mutation: 51 strains or lines available

References

• Original: J:240179 Shin Y, et al., A Dominant Mutation in Rpe65, D477G, Delays Dark Adaptation and Disturbs the Visual Cycle in the Mutant Knock-In Mice. Am J Pathol. 2017 Mar;187(3):517-527
• All: 2 reference(s)