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Targeted Allele Detail
Symbol: Prpf8tm1.1Eap
Name: pre-mRNA processing factor 8; targeted mutation 1.1, Eric A Pierce
MGI ID: MGI:4950563
Synonyms: Prpf8H2309P
Gene: Prpf8  Location: Chr11:75486816-75509449 bp, + strand  Genetic Position: Chr11, 45.92 cM
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, Inserted expressed sequence)
Mutations:    Insertion, Single point mutation
Mutation detailsAn FRT neo cassette was inserted into intron 42 and an A to C mutation resulting in a histidine to proline substitution at position 2309 (H2309P) was introduced in exon 42 via homologous recombination. 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. (J:171561)
View phenotypes for all genotypes (concatenated display).
Disease models
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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 Prpf8 Mutation:  36 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.04
The Jackson Laboratory