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| Nomenclature |
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Symbol:
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Prpf3tm1.1Eap
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Name:
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PRP3 pre-mRNA processing factor 3 homolog (yeast);
targeted mutation 1.1, Eric A Pierce
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MGI ID: |
MGI:4950562 |
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Synonyms: |
Prpf3T494M |
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Gene:
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Prpf3
Location:
Chr3:95830124-95855885 bp, - strand
Genetic Position: Chr3,
41.25 cM, cytoband F2
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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, Nucleotide substitutions |
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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 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)
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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 Prpf3 Mutation:
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11 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
