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| Nomenclature |
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Symbol:
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Ppt1tm1Aj
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Name:
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palmitoyl-protein thioesterase 1;
targeted mutation 1, Anu Jalanko
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MGI ID: |
MGI:3527191 |
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Synonyms: |
Cln1-, Ppt1deltaex4, Ppt1Deltaex4 |
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Gene:
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Ppt1
Location:
Chr4:122836242-122859175 bp, + strand
Genetic Position: Chr4,
57.27 cM, cytoband D1-D3
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:95522
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Parent Cell Line:
| LW1 (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 4, encoding the active site, was replaced with a loxP flanked hygromycin B resistance cassette. Tranfection of ES cells with a cre-expressing plasmid resulted in the excision of the hygro. Brain tissue from mutants was analyzed by RT-PCR to show the presence of the altered transcript. Sequence analysis revealed a frameshift and a premature stop codon after exon 3. (J:95522)
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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 Ppt1 Mutation:
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5 strains or lines available |
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| References |
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Original: |
J:95522
Jalanko A et al.,
"Mice with Ppt1(Deltaex4) mutation replicate the INCL phenotype and show an inflammation-associated loss of interneurons."
Neurobiol Dis 2005 Feb;18(1):226-41
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All: |
6 reference(s)
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Analysis Tools
