Allele/Variant

Tg(PSEN1dE9)S9Dbo

Species
Mus musculus
Symbol
Tg(PSEN1dE9)S9Dbo
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • deltaE9
  • huPS1deltaE9
Description
The coding sequence of the transgene is derived from the cDNA of the familial Alzheimer disease- (FAD-) associated deltaE9 variant of human presenilin 1, which has a splice acceptor mutation upstream of exon 9 that results in a protein lacking amino acids 290-319. The mutant cDNA replaces the coding region of the mouse prion protein (Prp) gene in a construct that contains ~6 kb of genomic DNA upstream of the primary PRP translation start site and includes the noncoding first exon and first intron and, following the inserted PSEN1 sequence, ~3 kb of 3' untranslated sequence; this construct has been shown to drive expression in both neurons and glial cells of the central nervous system (CNS).
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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