Version: 8.0.0
Date: Tue Jan 28 2025
Ppt1tm1.1Dprc
MGI:5585301
Allele of Ppt1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Ppt1tm1.1Dprc

Species
Mus musculus
Symbol
Ppt1tm1.1Dprc
Category
allele
Allele of gene
Ppt1
Transgenic Constructs
None
Synonyms
  • Cln1R151X
Description
A 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.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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