Prph2^tm1.1Itl
Targeted Allele Detail

Summary

• Symbol: Prph2^tm1.1Itl
• Name: peripherin 2; targeted mutation 1.1, inGenious Targeting Laboratory
• MGI ID: MGI:6367794
• Synonyms: Prph2^Y, Y141C-RDS
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^tm1.1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:215646
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Dominant negative)
• Mutations: Insertion, Single point mutation
• Mutation details: Two point mutations were introduced to exon 1 of the gene. The first was a silent C>G, to eliminate a Hinf1 restriction site to aid in genotyping, and the second was the pathogenic A>G, to introduce the p.Y141C substitution in the encoded protein. An frt site flanked neomycin selection cassette was removed via Flp-mediated recombination. (J:215646)
• Inheritance: Dominant

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: 27 strains or lines available

References

• Original: J:215646 Stuck MW, et al., The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse. Hum Mol Genet. 2014 Dec 1;23(23):6260-74
• All: 7 reference(s)