Version: 8.0.0
Date: Tue Jan 28 2025
Psen1tm3.1Shn
MGI:5427478
Allele of Psen1
Mus musculus
SummaryTransgenic ConstructsGenomic Variant InformationVariant Molecular ConsequencesPhenotypesDisease Associations
Allele/Variant

Psen1tm3.1Shn

Species
Mus musculus
Symbol
Psen1tm3.1Shn
Category
allele
Allele of gene
Psen1
Transgenic Constructs
None
Synonyms
  • c.548GTKI
Description
Exon 6 was replaced with a floxed neo cassette and a modified exon 6 with a transversion (c.548G>T) that results in the amino acid substitution of valine for glycine at position 183 (G183V), mimicking a mutation found in family suffering from a frontotemporal dementia (FTD). Cre-mediated recombination removed the neo 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
    Source
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