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PSEN2 R163C

MUTATIONS PSEN2 227073369 GRCh37 (105) rs200931244 C T Exon 5 Point, Missense Coding Unknown, but predicted damaging by in silico algorithms. Unknown R163C Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This mutation was found in a screen ...

PSEN2 V150M

MUTATIONS PSEN2 227073330 GRCh37 (105) rs866044092 G A Exon 5 Point, Missense Coding Unknown, but predicted damaging in silico. Unknown V150M Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This mutation was found in a screen of APP, PSEN1, ...

PSEN1 V103G

MUTATIONS PSEN1 73637725 GRCh37 (105) T G Exon 4 Point, Missense Coding Unknown, but predicted structural effect and predicted damaging by in silico algorithms (PolyPhen, SIFT, MutationTaster, CADD). Unknown V103G Alzheimer's Disease: Unclear ...

PSEN1 F177V

MUTATIONS PSEN1 73653609 GRCh37 (105) T G Exon 6 Point, Missense Coding Increased Aβ42 and Aβ42/Aβ40 in transfected cells. Unknown, but MRI showed global brain atrophy, especially in the temporal region and hippocampus in one patient. F177V Alzheimer's Disease ...

PS19 with humanized TREM2 (R47H)

RESEARCH MODELS Summary People who carry one copy of the R47H variant of TREM2 have an approximately threefold greater risk of developing Alzheimer’s disease than do people homozygous for the common variant. Earlier mouse models were generated to explore the effects of ...

PS19 with humanized TREM2 (common variant)

RESEARCH MODELS Summary These mice, referred to here as PS19-TREM2 CV, carry transgenes encoding the common variant of human TREM2 and human MAPT with the P301S mutation linked to frontotemporal dementia, on a mouse-Trem2-null background. This model was generated by ...

TREM2, humanized (R47H)

RESEARCH MODELS Summary People who carry one copy of the R47H variant of TREM2 have an approximately threefold greater risk of developing Alzheimer’s disease than do people homozygous for the common variant. This mouse model, referred to here as TREM2 R47H, expresses the ...

TREM2, humanized (common variant)

RESEARCH MODELS Summary This mouse model, referred to here as TREM2 CV, expresses the common variant of human TREM2 in the absence of mouse Trem2. Transgenic TREM2 is expressed in microglia and macrophages, where it was shown to function properly in an ex vivo assay. ...

MAPT G335A

MUTATIONS MAPT 44095990 GRCh37 (105) G C Exon 12 Point, Missense Coding Unknown, but other mutations at this position (G335S, G335V) reduce the ability of tau to promote microtubule assembly. Neuron loss in frontal and temporal cortices and substantia nigra. ...

PSEN1 R41S

MUTATIONS PSEN1 73637540 GRCh37 (105) A T Exon 4 Point, Missense Coding Unknown. Unknown, but in one patient, MRI showed moderate frontal cortex atrophy, PiB-PET no amyloid deposition, FDG-PET mild hypometabolism in the lateral temporal lobe. CSF Aβ and tau were ...

PSEN1 P355S

MUTATIONS PSEN1 73678584 GRCh37 (105) rs376433615 C T Exon 10 Point, Missense Coding Unknown, but cryo-EM data suggest perturbation of γ-secretase catalytic activity. Unkonwn, but MRI revealed microbleeds in cortex, basal ganglia, and subcortical white matter ...

PSEN1 W294Ter

MUTATIONS 73673106 GRCh37 (105) G A PSEN1 Exon 9 Point, Nonsense Coding Unknown, but 3D in silico modeling predicted pronounced structural effects. Unknown, but MRI of two carriers showed white matter and subcortical lesions, and a third carrier had lesions in the ...

PSEN1 A260G

MUTATIONS PSEN1 73664748 GRCh37 (105) C G Exon 8 Point, Missense Coding Unknown Unknown, but CSF bimoarkers were consistent with AD in two patients and MRI revealed mild cortical and hippocampal atrophy in one patient and signs of CAA in two patients.  A260G ...

Psen1 L435F knock-in

RESEARCH MODELS Summary The L435F mutation in PSEN1 was found in affected individuals in a family with early onset AD (Heilig et al., 2010). This knock-in rat model carries the homologous mutation in the rat Psen1 gene and a humanized Aβ sequence within the rat App gene ...

Trem2 R47H knock-in

RESEARCH MODELS Summary R47H is a rare variant in TREM2 that triples the risk of Alzheimer’s disease in heterozygous carriers. This knock-in rat model carries the R47H mutation in the rat Trem2 gene and a humanized Aβ sequence within the rat App gene (Tambini and D ...

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