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SHRSP/FAD

RESEARCH MODELS Summary Pure Alzheimer’s disease—in which brains contain only the pathological hallmarks of AD, amyloid plaques and neurofibrillary tangles—is rare: In one recent study of nearly 900 autopsy samples with AD pathology, approximately 85 percent also ...

PSEN1 F175del

MUTATIONS PSEN1 73653605 GRCh37 (105) TTC--- Exon 6 Deletion Coding Increased Aβ42 and Aβ39; decreased Aβ40 in cultured cells. Unknown, but MRI and FDG-PET observations, as well as CSF biomarkers, were consistent with AD. F175del Alzheimer's Disease: ...

APOE4 Knock-In, floxed (CureAlz)

RESEARCH MODELS Summary This knock-in mouse belongs to a set of models designed to allow investigators to compare the effects of the various human APOE isoforms and to conditionally disrupt APOE expression. In this version, “E4F,” the coding region of the mouse Apoe gene ...

APOE3 Knock-In, floxed (CureAlz)

RESEARCH MODELS Summary This knock-in mouse belongs to a set of models designed to allow investigators to compare the effects of the various human APOE isoforms and to conditionally disrupt APOE expression. In this version, “E3F,” the coding region of the mouse Apoe gene ...

APOE2 Knock-In, floxed (CureAlz)

RESEARCH MODELS Summary This knock-in mouse belongs to a set of models designed to allow investigators to compare the effects of the various human APOE isoforms and to conditionally disrupt APOE expression. In this version, “E2F,” the coding region of the mouse Apoe gene ...

PSEN2 A258V

MUTATIONS PSEN2 227076736 GRCh37 (105) rs14443227784 C T Exon 7 Point, Missense Coding Predicted not pathogenic in silico. Unknown A258V Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This variant was found in a Japanese individual ...

PSEN2 T421M

MUTATIONS PSEN2 227083195 GRCh37 (105) rs756609078 C T Exon 12 Point, Missense Coding Predicted to be pathogenic in silico (SIFT, PolyPhen2, Pmut). Unknown T421M Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a screen of ...

PSEN2 N141D

MUTATIONS PSEN2 227073303 GRCh37 (105) A G Exon 5 Point, Missense Coding Unknown, but 3 algorithms predict damaging with a PHRED CADD score of 24.9.  Unknown N141D Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a Han Chinese ...

APP V669L (Seoul)

MUTATIONS APP 27269944 GRCh37 (105) rs1259157720 G C Exon 16 Point, Missense Coding Unknown.  Predicted benign by PolyPhen-2 and SIFT; neutral by PROVEAN. Unknown, although MRI showed pronounced cerebral atrophy that included the hippocampus. V669L (Seoul) ...

PSEN2 Intron 9/12 C> T

MUTATIONS PSEN2 227078976 GRCh37 (105) rs1230394996 C T Intron 9/12 Point Non-Coding Unknown. PHRED CADD score of 9.977. Unknown Intron 9/12 C>T Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This splice-site mutation was found in a Han ...

PSEN2 A379D

MUTATIONS PSEN2 227081771 GRCh37 (105) C A Exon 11 Point, Missense Coding Unknown, but predicted damaging in silico. PHREDD CADD score = 27.1 Unknown A379D Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a Han Chinese ...

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 ...

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