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| Nomenclature |
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Symbol:
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Pink1tm1Aub
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Name:
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PTEN induced putative kinase 1;
targeted mutation 1, Georg Auburger
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MGI ID: |
MGI:3850370 |
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Gene:
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Pink1
Location:
Chr4:138313409-138326307 bp, - strand
Genetic Position: Chr4,
70.14 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:150206
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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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: A G309D (g8343a) mutation was inserted in exon 4 and a floxed neo cassette in inverse orientation was inserted into intron 5 via homologous recombination. Northern blot and saturation RT-PCR of splice boundaries in brain and liver mRNA analysis confirmed the absence of full length transcript expression. Saturation RT-PCR also suggests the residual expression of low levels of a large mutant mRNA. (J:150206)
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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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| References |
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Original: |
J:150206
Gispert S et al.,
"Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration."
PLoS One 2009;4(6):e5777
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All: |
2 reference(s)
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Analysis Tools
