Rpe65^rd12
Spontaneous Allele Detail

Summary

• Symbol: Rpe65^rd12
• Name: retinal pigment epithelium 65; retinal degeneration 12
• MGI ID: MGI:2388240
• Gene: Rpe65 Location: Chr3:159304812-159330958 bp, + strand Genetic Position: Chr3, 82.52 cM, cytoband H4
• Alliance: Rpe65^rd12 page

Photoreceptor degeneration without exposure to bright light in Rpe65^rd12/Rpe65^rd12 Rho^Tvrm4/Rho⁺ mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: B6.A-H2-T18^a/BoyEgJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This spontaneous mutation was discovered during a routine strain screen at The Jackson Laboratory. Its mapping location suggested it might be an allele of Rpe65, and a point mutation was identified in the Rpe65 gene. The mutation is a base substitution C-to-T at coding nucleotide 130 resulting in a stop codon in stead of arginine at position 44 (p.R44*). Immunostaining revealed that mutant eyes do not express RPE65 protein, and subretinal injection of the AAV5-CBA viral vector expressing human RPE65 significantly rescued the visual phenotype for at least 7 months following treatment. (J:94549)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Rpe65 Mutation: 52 strains or lines available

References

• Original: J:94549 Chang B, et al., A point mutation in the Rpe65 gene causes retinal degeneration (rd12) in mice. (The Association for Research in Vision & Ophthalmology Annual Meeting Abstract). Invest Ophthalmol Vis Sci. 2002;43(13):3670
• All: 34 reference(s)