Prkn^tm1Shn
Targeted Allele Detail

Summary

• Symbol: Prkn^tm1Shn
• Name: parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Jie Shen
• MGI ID: MGI:2681404
• Synonyms: Park2^tm1Shn, parkin -
• Gene: Prkn Location: Chr17:11059271-12282248 bp, + strand Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
• Alliance: Prkn^tm1Shn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:86377
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Exon 3 was replaced in-frame by the coding sequence for EGFP followed by a PGK-neomycin cassette. RT-PCR analysis indicated that exon 2 spliced to exon 4 in transcripts thus skipping exon 3 entirely. This results in a frame shift and a premature stop codon in exon 5. Western blot analysis using antibody specific to C-terminal sequences indicated the absence of gene product. (J:86377)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	2 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Prkn^tm1Shn

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Prkn Mutation: 54 strains or lines available

References

• Original: J:86377 Goldberg MS, et al., Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J Biol Chem. 2003 Oct 31;278(44):43628-35
• All: 120 reference(s)