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AppSAA Knock-in

RESEARCH MODELS Summary The App SAA mouse joins a list of knock-in models that carry a humanized Aβ sequence within the murine App gene (App knock-in (humanized Aβ), APP NL-F Knock-in, APP NL-G-F Knock-in). As in the latter two models, the App gene was further modified ...

PA-Rab5

RESEARCH MODELS Summary Rab5 is a small GTPase that regulates endosome trafficking, sorting, and fusion. Enlarged Rab5-positive endosomes are among the earliest neuropathological signs of Alzheimer’s disease and Down’s syndrome (Cataldo et al., 2000), and a body of ...

PSEN2 P287P

MUTATIONS 227077809 GRCh37 (105) rs75733498 C T PSEN2 Exon 8 Point, Silent Coding Unknown. Unknown, but associated with increased glucose metabolism in the bilateral fronto-temporo-parietal cortices. P287P Alzheimer's Disease: Unclear Pathogenicity This ...

PSEN1 c.*947G> A

MUTATIONS 73686944 GRCh37 (105) rs7523 G A PSEN1 3' UTR Point Non-Coding Unknown Unknown, associated with increased thickness in the inferior frontal and orbitofrontal cortices, and basal ganglia c.*947G>A Alzheimer's Disease: Unclear Pathogenicity ...

Atg16LΔWD

RESEARCH MODELS Summary In addition to their roles in canonical autophagy, some protein components of the autophagy machinery are involved in recycling cell-surface receptors in microglia (see Jun 2019 News). Atg16L ΔWD mice express a prematurely truncated version of the ...

Plcγ2-P522R knock-in

RESEARCH MODELS Summary The PLCG2 gene encodes the enzyme phospholipase C gamma 2 (PLCγ2), a mediator of transmembrane signaling in microglia that acts downstream of TREM2. A rare variant in this gene, P522R, has been associated with reduced risks of Alzheimer’s disease ...

PSEN2 R284G

MUTATIONS PSEN2 227077798 GRCh37 (105) rs1208742830 A G Exon 8 Point, Missense Coding Increased Aβ42 and Aβ42/Aβ40 in a cell assay. Unknown. R284G Alzheimer's Disease: Pathogenic This variant was found in an individual with early-onset Alzheimer’s disease (AD) ...

PSEN1 G378R

MUTATIONS 73683836 GRCh37 (105) G C PSEN1 Exon 11 Point, Missense Coding Unknown, but predicted deleterious in silico and two other pathogenic mutations in same residue. Unknown, but MRI of one patient showed fronto-temporo-parietal atrophy and CSF biomarkers ...

PSEN2 S236S

MUTATIONS 227076671 GRCh37 (105) rs61730652 T C PSEN2 Exon 7 Point, Silent Coding Unknown. Unknown, but in one patient PET showed amyloid deposition and MRI revealed atrophy in temporo-insular cortices. FDG-PET showed diffuse hypometabolism in the cortex and ...

APP D332G

MUTATIONS APP 27372368 GRCh37 (105) rs773998162 A G Exon 7 Point, Missense Coding Unknown, but predicted to be damaging by PolyPhen-2 and tolerated by SIFT. Unknown, but MRI showed atrophy of the hippocampus and of the temporal and parietal lobes. D332G Alzheimer& ...

APP T297M

MUTATIONS APP 27372473 GRCh37 (105) rs557227002 C T Exon 7 Point, Missense Coding Unknown, but predicted to be damaging by PolyPhen-2 and deleterious by SIFT. Unknown. T297M Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This variant was ...

APP D244G

MUTATIONS APP 27394290 GRCh37 (105) rs1347585131 A G Exon 6 Point, Missense Coding Unknown, but predicted to be probably damaging by PolyPhen-2 and tolerated by SIFT. Unknown. D244G Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This ...

APP V604M

MUTATIONS APP 27284152 GRCh37 (105) rs199887707 G A Exon 14 Point, Missense Coding Unknown. Predicted to be possibly damaging by PolyPhen-2, tolerated by SIFT, and neutral by PROVEAN. Unknown, but MRI showed atrophy of the frontoparietal cortex and hippocampus. ...

APP R486W

MUTATIONS APP 27347385 GRCh37 (105) rs201085152 C T Exon 11 Point, Missense Coding Unknown, but predicted to be probably damaging by PolyPhen-2 and deleterious by SIFT. Unknown. R486W Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This ...

APP E380K

MUTATIONS APP 27354743 GRCh37 (105) rs755703063 G A Exon 9 Point, Missense Coding Unknown, but predicted to be probably damaging by PolyPhen-2, damaging by SIFT, and neutral by PROVEAN. Unknown, but imaging revealed brain atrophy. E380K Alzheimer's Disease: ...

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