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Prkntm1Ccs
Targeted Allele Detail
Nomenclature
Symbol: Prkntm1Ccs
Name: parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Christine C Stichel
MGI ID: MGI:3764690
Synonyms: pa-, 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:127707
Parent Cell Line:  R1 (ES Cell)
Strain of Origin:  (129X1/SvJ x 129S1/Sv)F1-Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 3 was replaced with a neo-loxP cassette resulting in a frameshift mutation after amino acid 57. The shortened transcript was confirmed by RT-PCR analysis on brain tissue. The lack of protein production was confirmed by western blot analysis on total brain protein using a polyclonal antibody against the N-terminus. (J:127707)
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: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Prkn Mutation:  29 strains or lines available
References
Original:  J:127707 Stichel CC, et al., Mono- and double-mutant mouse models of Parkinson's disease display severe mitochondrial damage. Hum Mol Genet. 2007 Oct 15;16(20):3377-93
All:  6 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/07/2020
MGI 6.14
The Jackson Laboratory