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Pink1tm1Aub
Targeted Allele Detail
Summary
Symbol: Pink1tm1Aub
Name: PTEN induced putative kinase 1; targeted mutation 1, Georg Auburger
MGI ID: MGI:3850370
Gene: Pink1  Location: Chr4:138040720-138053618 bp, - strand  Genetic Position: Chr4, 70.14 cM
Alliance: Pink1tm1Aub page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:150206
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Humanized sequence, Null/knockout)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA p.G308D (g8343a) mutation was created in exon 4 and a floxed neo cassette in inverse orientation was inserted into intron 5 via homologous recombination. The mutation is the equivalent of the G309D mutation found in Parkinson's Disease patients. 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)
Generation of the Pink1tm1Aub allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Pink1 Mutation:  30 strains or lines available
References
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
All:  10 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/26/2022
MGI 6.22
The Jackson Laboratory