Rpe65^tm1.1Kpal
Targeted Allele Detail

Summary

• Symbol: Rpe65^tm1.1Kpal
• Name: retinal pigment epithelium 65; targeted mutation 1.1, Krzysztof Palczewski
• MGI ID: MGI:6194388
• Synonyms: D477G KI
• Gene: Rpe65 Location: Chr3:159304812-159330958 bp, + strand Genetic Position: Chr3, 82.52 cM, cytoband H4
• Alliance: Rpe65^tm1.1Kpal page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:263780
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv x C57BL/6

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutation: Single point mutation
• Mutation details: Exon 13 was replaced with a modified one in which a G to A point mutation results in the amino acid substitution of glycine for asparagine at position 477 (D477G). Flp-mediated recombination removed the selection cassette. (J:263780)

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:263780 Choi EH, et al., Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65. Hum Mol Genet. 2018 Jul 1;27(13):2225-2243
• All: 2 reference(s)