Prph2^em1Sal
Endonuclease-mediated Allele Detail

Summary

• Symbol: Prph2^em1Sal
• Name: peripherin 2; endonuclease-mediated mutation 1, Universidad de Salamanca
• MGI ID: MGI:7593949
• Synonyms: Prph2^KI
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^em1Sal page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated G to T change at position 584 (c.584G>T) resulting in an arginine to leucine substitution at amino acid 195 (p.R195L). This mutation is localized in helix D, which is in the peripheral area of the interface crevice, the domain involved in PRPH2 oligomerization. This is a variant found in a family with central areolar choroidal dystrophy. (J:342243)

Disease models

Expression

In Structures Affected by this Mutation:

8 anatomical structure(s)

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 Prph2 Mutation: 28 strains or lines available

References

• Original: J:342243 Ruiz-Pastor MJ, et al., Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation. Cell Death Dis. 2023 Nov 1;14(11):711
• All: 1 reference(s)