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Thy1-αSyn “Line 61” Mouse

RESEARCH MODELS Summary The Thy1-αSyn mouse model, a.k.a. Line 61, overexpresses human α-synuclein under the Thy1 promoter (Rockenstein et al., 2002). It is one of the most extensively characterized animal models of Parkinson’s disease (PD), and reproduces several ...

PWK.APP/PS1

RESEARCH MODELS Summary In an effort to mimic the genetic diversity seen in human populations, scientists have crossed popular transgenic mouse models of Alzheimer’s disease with mice of various genetic backgrounds (see 28 Dec 2018 news; 21 Jun 2019 news).  PWK.APP/PS1 ...

WSB.APP/PS1

RESEARCH MODELS Summary In an effort to mimic the genetic diversity seen in human populations, scientists have crossed popular transgenic mouse models of Alzheimer’s disease with mice of various genetic backgrounds (see 28 Dec 2018 news; 21 Jun 2019 news). WSB.APP/PS1 ...

CAST.APP/PS1

RESEARCH MODELS Summary In an effort to mimic the genetic diversity seen in human populations, scientists have crossed popular transgenic mouse models of Alzheimer’s disease with mice of various genetic backgrounds (see 28 Dec 2018 news; 21 Jun 2019 news).  CAST.APP/PS1 ...

APPswe/PSEN1dE9 (C57BL6)

RESEARCH MODELS Summary APPswe/PSEN1dE9 mice carry two transgenes with AD-linked mutations: a chimeric mouse/human APP with the Swedish mutation and human PSEN1 lacking exon 9 (dE9), both under the control of the mouse prion protein promoter. This popular model was ...

TREM2 G145W

MUTATIONS TREM2 41127579 GRCh37 (105) rs766647311 G T Exon 3 Point, Missense Coding Leads to a change in protein conformation (shortening of the intrinsically disordered region between the immunoglobulin-like and transmembrane domains), and reduces cellular ...

PSEN1 V272D

MUTATIONS PSEN1 73664784 GRCh37 (105) T A Exon 8 Point, Missense Coding Increased Aβ42/Aβ40 ratio in cultured cells.  Unknown, but MRI in one case revealed frontotemporal atrophy. V272D Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was ...

AD-BXD

RESEARCH MODELS “AD-BXD” refers to a panel of transgenic mouse strains, created to model the genetic diversity seen in human populations. These mice represent a unique resource for scientists seeking to identify genetic factors that influence resilience or vulnerability ...

PSEN1 P242Lfs (P242LfsX11)

MUTATIONS 73659528 GRCh37 (105) C- PSEN1 P242LfsX11 Exon 7 Deletion Coding Decreases PSEN1 mRNA due to premature stop codon, nonsense-mediated decay. No effect on APP cleavage, but enhances Notch signaling. Also enhances cytokine and chemokine expression, and ...

PSEN1 Y159F

MUTATIONS PSEN1 73640411 GRCh37 (105) rs778630379 A T Exon 5 Point, Missense Coding Unknown. Unknown, but CSF biomarkers suggestive of AD. Y159F Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a woman whose family included ...

PSEN1 T116S; P117T

MUTATIONS PSEN1 Chr14:73640281 GRCh37 (105) Exon 5 Insertion/Deletion Coding Unknown. In silico predictions mixed: deleterious (PolyPhen2, SIFT, PROVEAN); uncertain significance (Mutation Taster 2); medium effect (Mutation Assessor); T116S neutral and P117T ...

MAPT P397S

MUTATIONS MAPT 44101400 GRCh37 (105) rs1295855402 C T Exon 13 Point, Missense Coding Unknown. In silico predictions yield a range of results, but the proline-to-serine change at amino acid 397 should prevent phosphorylation of the adjacent serine 396 by proline ...

PSEN1 H214R

MUTATIONS PSEN1 73659444 GRCh37 (105) A G Exon 7 Point, Missense Coding Unknown, but six in silico algorithms predicted it is deleterious. Unknown, but in one case, MRI showed mild white matter demyelination of the frontal and parietal lobes, with no apparent ...

PSEN1 Y256N

MUTATIONS PSEN1 73659569 GRCh37 (105) T A Exon 7 Point, Missense Coding Unknown, but in silico algorithms predict the mutation is deleterious. Unknown, but MRI revealed temporal lobe and hippocampal atrophy in one case. Y256N Alzheimer's Disease: ...

PSEN1 V261I

MUTATIONS PSEN1 73664750 GRCh37 (105) G A Exon 8 Point, Missense Coding Unknown. Consistent with AD, with widespread cotton wool plaques. V261I Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in an individual diagnosed with ...

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