Prpf3^tm1.1Eap
Targeted Allele Detail

Summary

• Symbol: Prpf3^tm1.1Eap
• Name: pre-mRNA processing factor 3; targeted mutation 1.1, Eric A Pierce
• MGI ID: MGI:4950562
• Synonyms: Prpf3^T494M
• Gene: Prpf3 Location: Chr3:95737436-95763197 bp, - strand Genetic Position: Chr3, 41.25 cM, cytoband F2
• Alliance: Prpf3^tm1.1Eap page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:171561
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An 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)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
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 Prpf3 Mutation: 35 strains or lines available

References

• 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: 3 reference(s)