Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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: Chr11:75377642-75400275 bp, + strand  Genetic Position: Chr11, 45.92 cM
Alliance:	Prpf8tm1.1Eap page

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, 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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

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)