Ppt1tm1Aj
Targeted Allele Detail
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Symbol: |
Ppt1tm1Aj |
Name: |
palmitoyl-protein thioesterase 1; targeted mutation 1, Anu Jalanko |
MGI ID: |
MGI:3527191 |
Synonyms: |
Cln1-, Ppt1deltaex4, Ppt1Deltaex4 |
Gene: |
Ppt1 Location: Chr4:122730035-122752968 bp, + strand Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
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Alliance: |
Ppt1tm1Aj page
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Germline Transmission: |
Earliest citation of germline transmission:
J:95522
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Parent Cell Line: |
LW1 (ES Cell)
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Strain of Origin: |
129S4/SvJae
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Allele Type: |
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Targeted (Null/knockout) |
Mutations: |
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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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View phenotypes and curated references for all genotypes (concatenated display).
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Mouse strains and cell lines
available from the International Mouse Strain Resource
(IMSR) |
Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available
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Carrying any Ppt1 Mutation: |
18 strains or lines available
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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 |
All: |
8 reference(s) |
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