Research Models

PSEN1(P117L) (line 13)

Synonyms: PS1(P117L)

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Species: Mouse
Genes: PSEN1
Mutations: PSEN1 P117L
Modification: PSEN1: Transgenic
Disease Relevance: Alzheimer's Disease
Strain Name: N/A
Genetic Background: Mixed C57BL/6 and DBA/2J
Availability: No longer available

Modification Details

Transgene of human PSEN1 with the P117L mutation driven by the neuron specific enolase (NSE) promoter.

Summary

Amyloid pathology is absent in these mice, but they have impaired neurogenesis. Specifically, the survival of BrdU-labeled neural progenitor cells was impaired leading to fewer newborn neurons. This effect was specific to expression of the mutant PSEN1 in that the survival and differentiation of progenitors in mice overexpressing wild-type human PSEN1 were similar to nontransgenic mice (Wen et al., 2002).

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References

Paper Citations

  1. . Overexpression of wild type but not an FAD mutant presenilin-1 promotes neurogenesis in the hippocampus of adult mice. Neurobiol Dis. 2002 Jun;10(1):8-19. PubMed.

Further Reading

Papers

  1. . The presenilin-1 familial Alzheimer disease mutant P117L impairs neurogenesis in the hippocampus of adult mice. Exp Neurol. 2004 Aug;188(2):224-37. PubMed.
  2. . Presenilin-1 is expressed in neural progenitor cells in the hippocampus of adult mice. Neurosci Lett. 2002 Jan 25;318(2):53-6. PubMed.
  3. . Maladaptive exploratory behavior and neuropathology of the PS-1 P117L Alzheimer transgenic mice. Brain Res Bull. 2013 May;94:17-22. PubMed.