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| Nomenclature |
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Symbol:
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Park2tm1Ccs
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Name:
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Parkinson disease (autosomal recessive, juvenile) 2, parkin;
targeted mutation 1, Christine C Stichel
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MGI ID: |
MGI:3764690 |
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Synonyms: |
pa-, 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:127707
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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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 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)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Park2 Mutation:
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13 strains or lines available |
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| References |
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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
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All: |
5 reference(s)
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Analysis Tools
