Prph2^tm2.1Itl
Targeted Allele Detail

Summary

• Symbol: Prph2^tm2.1Itl
• Name: peripherin 2; targeted mutation 2.1, inGenious Targeting Laboratory
• MGI ID: MGI:6367783
• Synonyms: N229S-RDS, Prph2^N
• Gene: Prph2 Location: Chr17:47221404-47235859 bp, + strand Genetic Position: Chr17, 22.91 cM
• Alliance: Prph2^tm2.1Itl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:276288
• 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: Two point mutations were introduced to exon 2 of the gene. The first was a silent G>A to eliminate a Hha1 restriction site to aid in genotyping, and the second was the A>G missense mutation to produce the p.N229S substitution in the encoded protein. An FRT site flanked neomycin selection cassette was removed via flp-mediated recombination. (J:276288)

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: 26 strains or lines available

References

• Original: J:276288 Stuck MW, et al., Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDS.ROM-1 Protein Complex Formation. J Biol Chem. 2015 Nov 13;290(46):27901-13
• All: 3 reference(s)