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Prkntm1Roo
Targeted Allele Detail
Nomenclature
Symbol: Prkntm1Roo
Name: parkin RBR E3 ubiquitin protein ligase; targeted mutation 1, Thomas A Rooney
MGI ID: MGI:2678247
Synonyms: PK-
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:85561
Parent Cell Line:  CK35 (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsAll 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. (J:85561)
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: 5 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:85561 Itier JM, et al., Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse. Hum Mol Genet. 2003 Sep 15;12(18):2277-91
All:  26 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