Mutations: PSEN1 H163R
Modification: PSEN1: Transgenic
Disease Relevance: Alzheimer's Disease
Strain Name: B6.129S4-Tg(PSEN1H163R)G9Btla/J
Genetic Background: Origin: 129S4/SvJae, backcrossed to C57BL/6
Availability: The Jackson Lab: Stock# 006469; Cryopreserved
These mice were generated along with an APP YAC line and crossed to compare the phenotypes of the single transgenics with the double transgenic. The PS-1 YAC mice are viable and fertile as hemizygotes but not viable as homozygotes. They express human PSEN1 with the H163R mutation at levels comparable to levels of wild-type mouse PSEN1. They have been shown to express alternatively spliced human PSEN1 transcripts. They have elevated levels of Aβ42 in the brain and plasma, but have higher levels and earlier Aβ deposits when crossed with APP YAC line R1.40 (Lamb et al., 1999).
A 1000 kb YAC transgene (788H12) containing the entire human PSEN1 gene with the H163R mutation. Transgene also has about 550 kb of upstream and 350 kb of downstream flanking sequences.
- Lamb BT, Bardel KA, Kulnane LS, Anderson JJ, Holtz G, Wagner SL, Sisodia SS, Hoeger EJ. Amyloid production and deposition in mutant amyloid precursor protein and presenilin-1 yeast artificial chromosome transgenic mice. Nat Neurosci. 1999 Aug;2(8):695-7. PubMed.
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