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RESEARCH MODELS Summary Plcg2 (phospholipase C, gamma 2) is highly expressed in microglia, and a rare coding variant, rs72824905 (p.P522R), has been found to decrease AD risk by almost one-third (Sims, et al., 2017). Another rare variant, rs61749044 (p.M28L), was found t
RESEARCH MODELS Summary APOE2 KI mice express humanized APOE (isoform 2) from the endogenous Apoe locus. Modification Details APOE2 KI mice were generated by using CRISPR/Cas9 to introduce two point mutations (leading to arginine to cysteine substitutions at amino acids
RESEARCH MODELS Summary Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (Paloneva et al., 2002), a rare, autosomal-recessive disorder characterized by bone fractures and early onset frontotemporal dementia (Paloneva et al., 2015), and may confer increased r
RESEARCH MODELS Summary Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (Paloneva et al., 2002), a rare, autosomal-recessive disorder characterized by bone fractures and early onset frontotemporal dementia (Paloneva et al., 2015), and may confer increased r
RESEARCH MODELS Summary TDP-43 pathology characterizes a neurodegenerative disease spectrum that encompasses ALS and FTD. Transgenic mice have been used to study the pathological effects of mutant TDP-43, but the interpretation of their phenotypes is complicated by poten
RESEARCH MODELS Summary Humanized TREM2 mice were created in a two-step process: First, researchers generated transgenic mice that carry BACs containing the common variant of human TREM2, including its regulatory elements. Then these BAC transgenic mice were back-crossed
RESEARCH MODELS Summary The R47H variant of TREM2 has been found to confer an approximately threefold greater risk for Alzheimer’s disease in humans heterozygous for this allele. To study the effects of the R47H variant in the context of amyloidosis, mice carrying a huma
RESEARCH MODELS APOE4 knock-in mice express a humanized APOE4 allele from the endogenous ApoE locus. APOE was humanized by replacing mouse ApoE exons 2, 3, and most of exon 4, with human APOE4 sequence including exons 2, 3, 4 and a portion of the 3' UTR sequence. Ho
RESEARCH MODELS Summary APOE3 knock-in mice express humanized APOE3 from the endogenous ApoE locus. Homozygotes are viable and fertile. Modification Details APOE3 knock-in mice were generated by using CRISPR/Cas9 gene editing to introduce a point mutation (leading to an
RESEARCH MODELS Summary Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) (Paloneva et al., 2002), a rare, autosomal-recessive disorder characterized by bone fracture
RESEARCH MODELS Summary Loss-of-function mutations in TREM2 are associated with Nasu-Hakola disease, Alzheimer’s disease, and frontotemporal dementia (Yeh et al., 2017; Jay et al., 2017). At least three patients presenting with frontotemporal dementia-like symptoms have
RESEARCH MODELS Summary R47H is a rare variant in TREM2 that triples the risk of Alzheimer’s disease in heterozygous carriers. Several murine Trem2 R47H knock-in lines have been created using CRISPR/Cas9 gene editing, but early models, including Jackson Lab’s Trem2 R47H
RESEARCH MODELS Summary The Y38C variant, in a homozygous state, was found in a Turkish man who developed seizures and a frontotemporal dementia (FTD)-like syndrome in his fourth decade, with death occurring 12 years after symptom onset (Guerreiro et al., 2013). In addit
RESEARCH MODELS Summary Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) (Paloneva et al., 2002), a rare, autosomal-recessive disorder characterized by bone fracture
RESEARCH MODELS Summary Loss-of-function mutations in TREM2 cause Nasu-Hakola disease (also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) (Paloneva et al., 2002), a rare, autosomal-recessive disorder characterized by bone fracture
