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| Nomenclature |
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Symbol:
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Park2tm1Shn
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Name:
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Parkinson disease (autosomal recessive, juvenile) 2, parkin;
targeted mutation 1, Jie Shen
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MGI ID: |
MGI:2681404 |
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Synonyms: |
parkin - |
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Gene:
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Park2
Location:
Chr17:10840384-12063361 bp, + strand
Genetic Position: Chr17,
7.8 cM, cytoband A3.2-A3.3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:86377
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Parent Cell Line:
| J1 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
12 reference(s)
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Analysis Tools
