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Allele : Prkn<tm1Roo> parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Thomas A Rooney

Primary Identifier  MGI:2678247 Allele Type  Targeted
Attribute String  Null/knockout Gene  Prkn
Transmission  Germline Strain of Origin  129S2/SvPas
Is Recombinase  false Is Wild Type  false
molecularNote  All but 62 5' bp of exon 3 was replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encompassed 179 bp of exon 3 and 918 bp of intron 3. Northern blot and RT-PCR analyses showed an absence of wild-type transcript but identified a mutant transcript in which exon 3 was skipped and exons 2 and 4 spliced. Sequence analysis of the aberrant trancscript indicated a frameshift mutation beginning at position 57 and resulting in a stop codon at position 105. Protein was undetected by Western blot analysis using an antibody directed against residues 71 through 92.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • PK<->,
  • PK<->
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

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0 Driven By

37 Publication categories

Trail: Allele