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Prkntm1Shn
Targeted Allele Detail
Nomenclature
Symbol: Prkntm1Shn
Name: parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Jie Shen
MGI ID: MGI:2681404
Synonyms: Park2tm1Shn, parkin -
Gene: Prkn  Location: Chr17:10840384-12063361 bp, + strand  Genetic Position: Chr17, 7.8 cM, cytoband A3.2-A3.3
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 detailsExon 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)
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 Prkn Mutation:  27 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:  40 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/09/2018
MGI 6.12
The Jackson Laboratory