Allele/Variant

Psen1tm1.1Tcs

Species
Mus musculus
Symbol
Psen1tm1.1Tcs
Category
allele
Allele of gene
Psen1
Transgenic Constructs
None
Synonyms
  • PS1-R278I
Description
Exon 8 was replaced with a neo cassette and a modified exon 8 in which a G to T mutation results in the amino acid substitution of isoleucine for arginine at position 278 (R278I), mimicking a mutation found in a pedigree bearing atypical Alzheimer's disease with language impairment. 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
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
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