Prpf8^tm1.1Eap
Targeted Allele Detail

Summary

• Symbol: Prpf8^tm1.1Eap
• Name: pre-mRNA processing factor 8; targeted mutation 1.1, Eric A Pierce
• MGI ID: MGI:4950563
• Synonyms: Prpf8^H2309P
• Gene: Prpf8 Location: Chr11:75377642-75400275 bp, + strand Genetic Position: Chr11, 45.92 cM
• Alliance: Prpf8^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, Single point mutation
• Mutation details: An 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)

Disease models

Expression

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 Prpf8 Mutation: 88 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: 2 reference(s)