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Allele : Pink1<tm1Aub> PTEN induced putative kinase 1; targeted mutation 1, Georg Auburger

Primary Identifier  MGI:3850370 Allele Type  Targeted
Attribute String  Humanized sequence, Null/knockout Gene  Pink1
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

13 Publication categories