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| Nomenclature |
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Symbol:
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Park2tm1Tmd
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Name:
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Parkinson disease (autosomal recessive, juvenile) 2, parkin;
targeted mutation 1, Ted M Dawson
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MGI ID: |
MGI:3050230 |
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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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Decrease in tyrosine hydroxylase (TH) containing neurons in the locus coeruleus (LC) of Park2tm1Tmd/Park2tm1Tmd mice
Show the 1 image(s) involving this allele.
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:91487
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Intragenic deletion |
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Mutation details: Cre-mediated recombination excised exon 7 and a 3' FRT-flanked neo, which had been inserted via homologous recombination, in the germ line. Because exon 7 contains a nonintegral number of codons, a deletion of it results in a frame shift after amino acid 243 and premature stop codon in exon 8 after 8 amino acids. Northern blot detected transcript slightly smaller than that of wild-type, and RT-PCR confirmed it was the result of the deletion of exon 7. Western blot failed to detect protein in mutant mice brains. (J:91487)
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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:91487
Von Coelln R et al.,
"Loss of locus coeruleus neurons and reduced startle in parkin null mice."
Proc Natl Acad Sci U S A 2004 Jul 20;101(29):10744-9
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All: |
6 reference(s)
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Analysis Tools
