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| Nomenclature |
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Symbol:
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Park2tm1Roo
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Name:
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Parkinson disease (autosomal recessive, juvenile) 2, parkin;
targeted mutation 1, Thomas A Rooney
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MGI ID: |
MGI:2678247 |
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Synonyms: |
PK- |
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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:85561
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Parent Cell Line:
| CK35 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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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: All 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)
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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: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
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All: |
16 reference(s)
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Analysis Tools
