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| Nomenclature |
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Symbol:
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Prpf8tm1.1Eap
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Name:
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pre-mRNA processing factor 8;
targeted mutation 1.1, Eric A Pierce
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MGI ID: |
MGI:4950563 |
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Synonyms: |
Prpf8H2309P |
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Gene:
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Prpf8
Location:
Chr11:75486816-75509449 bp, + strand
Genetic Position: Chr11,
45.92 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:171561
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129S6/SvEvTac
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Single point mutation |
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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 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Prpf8 Mutation:
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12 strains or lines available |
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| References |
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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
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All: |
1 reference(s)
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Analysis Tools
