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Targeted Allele Detail
Symbol: Prpf3tm1.1Eap
Name: pre-mRNA processing factor 3; targeted mutation 1.1, Eric A Pierce
MGI ID: MGI:4950562
Synonyms: Prpf3T494M
Gene: Prpf3  Location: Chr3:95830124-95855885 bp, - strand  Genetic Position: Chr3, 41.25 cM, cytoband F2
Germline Transmission:  Earliest citation of germline transmission: J:171561
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsAn FRT flanked neo cassette was inserted into intron 10 and a CA to TG mutation resulting in a threonine to methionine substitution at position 494 (T494M) was introduced in exon 11 via homologous recombination. Additionally a silent mutation eliminating an XmnI digest site was introduced for genotyping purposes. Flp mediated recombination removed the neo cassette. Northern blot analysis indicates the transcript size and level of transcript expression in retinas from homozygous mice are similar to wild-type controls. Western blot analysis confirmed that protein expression in retinas from homozygous mice is similar to wild-type controls. Subcellular localization in retinas from homozygous mice is also similar to wild-type controls. (J:171561)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 3 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 Prpf3 Mutation:  26 strains or lines available
Original:  J:171561 Graziotto JJ, et al., Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci. 2011 Jan;52(1):190-8
All:  2 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.13
The Jackson Laboratory