Prph2^tm4.1Itl
Targeted Allele Detail

Summary

• Symbol: Prph2^tm4.1Itl
• Name: peripherin 2; targeted mutation 4.1, inGenious Targeting Laboratory
• MGI ID: MGI:6492300
• Synonyms: C213Y, Prph2^C
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^tm4.1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:292411
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A G to A point mutation was introduced in exon 2 to create a cysteine to tyrosine substitution at residue 213 (p.C213Y) in the encoded protein. In addition a loxP/FRT flanked neomycin cassette was inserted 882 bp 3' to a second silent mutation (G to A) in exon 2 to introduce a restriction site for genotyping. Flp-mediated recombination removed the Neo cassette. Levels of mutant transcript in homozygotes are similar to wild-type levels, however retinas have only approximately 10% of wild-type levels of protein. (J:292411)

Disease models

Expression

In Structures Affected by this Mutation:

3 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:292411 Chakraborty D, et al., Novel molecular mechanisms for Prph2-associated pattern dystrophy. FASEB J. 2020 Jan;34(1):1211-1230
• All: 3 reference(s)