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Prph2tm2.1Itl
Targeted Allele Detail
Summary
Symbol: Prph2tm2.1Itl
Name: peripherin 2; targeted mutation 2.1, inGenious Targeting Laboratory
MGI ID: MGI:6367783
Synonyms: N229S-RDS, Prph2N
Gene: Prph2  Location: Chr17:47221404-47235859 bp, + strand  Genetic Position: Chr17, 22.91 cM
Alliance: Prph2tm2.1Itl 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 detailsTwo 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:  27 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/23/2024
MGI 6.23
The Jackson Laboratory