Tg(PSEN1dE9)S9Dbo
Transgene Detail

Summary

• Symbol: Tg(PSEN1dE9)S9Dbo
• Name: transgene insertion S9, David R Borchelt
• MGI ID: MGI:3618599
• Synonyms: deltaE9, huPS1deltaE9, line S-9, PS1dE9 transgene, PS1 deltaE9, PS1-deltaE9, PS1deltaE9 (line S-9), PS1 transgene (line S-9)
• Transgene: Tg(PSEN1dE9)S9Dbo Location: unknown
• Alliance: Tg(PSEN1dE9)S9Dbo page

Transgene origin

• Strain of Origin: (C57BL/6J x C3H/HeJ)F2

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(PSEN1dE9)S9Dbo expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  PSEN1 (5663)

  Psen1

  (MGI:1202717)

  Exon 9 is deleted.

• Mutation details: 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). (J:34323, J:80782, J:104147)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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

Notes

The deltaE9 PSEN1 protein variant fails to undergo endoproteolysis in cultured lymphoblasts from an affected human carrier and instead accumulates as the full-length, 40 kDa mutant protein (J:34323). Similarly, immunoblotting of of cortical and hippocampal extracts from transgenic mice under conditions that distinguish mouse and human full-length PSEN1 and their endoproteolytic derivatives demonstrates failure of the transgenic protein to undergo endoproteolysis. (J:104147)

The amount of full-length mutant human PSEN1 in brains of deltaE9 PSEN1 transgenic mice exceeds by ~60% the cumulative amount of the full-length human PSEN1 and its N-terminal derivative in brains of transgenic mice expressing wild-type human PSEN1. (J:104147)

References

• Original: J:78664 Jankowsky JL, et al., Co-expression of multiple transgenes in mouse CNS: a comparison of strategies. Biomol Eng. 2001 Jun;17(6):157-65
• All: 84 reference(s)