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Targeted Allele Detail
Symbol: Prph2tm1Nmc
Name: peripherin 2; targeted mutation 1, Niamh McNally
MGI ID: MGI:2182621
Synonyms: Prph2delta307, rds-307
Gene: Prph2  Location: Chr17:47221404-47235859 bp, + strand  Genetic Position: Chr17, 22.91 cM
Germline Transmission:  Earliest citation of germline transmission: J:76490
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsA 1 bp deletion found in an autosomal dominant form of human retinitis pigmentosa was introduced into codon 307 of the mouse gene in conjunction with a loxP-neo cassette situated in the 3' untranslated region (500 bp from the 307 mutation) via homologous recombination. Homozygous mutant animals were identified by PCR genotyping and Southern blot analysis and the presence of the codon 307 mutation was verified by RT-PCR of cDNA from retinas of homozygous mutant animals. (J:76490)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 5 anatomical structures
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:  20 strains or lines available
Original:  J:76490 McNally N, et al., Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. Hum Mol Genet. 2002 May 1;11(9):1005-16
All:  5 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
MGI 6.19
The Jackson Laboratory