Pink1^tm1Aub
Targeted Allele Detail

Summary

• Symbol: Pink1^tm1Aub
• 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: Pink1^tm1Aub 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 details: A 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 Pink1^tm1Aub allele

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	1 anatomical structure(s)

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: 43 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)