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Ppt1tm1.1Dprc
Targeted Allele Detail
Nomenclature
Symbol: Ppt1tm1.1Dprc
Name: palmitoyl-protein thioesterase 1; targeted mutation 1.1, David Pearce
MGI ID: MGI:5585301
Synonyms: Cln1R151X
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:213552
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S6/SvEvTac x C57BL/6J
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsA targeting construct was designed to insert a C to T point mutation in exon 5 of the gene, resulting in a non-sense mutation, R151X, commonly found in humans with neuronal ceroid lipofuscinoses (NCLs). A loxP- and frt-flanked neomycin (neo) resistance cassette was inserted downstream of exon 5. Cre-mediated recombination removed the floxed neomycin cassette. (J:213552)
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: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Ppt1 Mutation:  5 strains or lines available
References
Original:  J:213552 Miller JN, et al., The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapy. Hum Mol Genet. 2015 Jan 1;24(1):185-96
All:  1 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