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Ppt1tm1Aj
Targeted Allele Detail
Nomenclature
Symbol: Ppt1tm1Aj
Name: palmitoyl-protein thioesterase 1; targeted mutation 1, Anu Jalanko
MGI ID: MGI:3527191
Synonyms: Cln1-, Ppt1deltaex4, Ppt1Deltaex4
Gene: Ppt1  Location: Chr4:122836242-122859175 bp, + strand  Genetic Position: Chr4, 57.27 cM, cytoband D1-D3
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:95522
Parent Cell Line:  LW1 (ES Cell)
Strain of Origin:  129S4/SvJae
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsExon 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 9 anatomical structures
Find Mice (IMSR)
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
Carrying any Ppt1 Mutation:  5 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory