Gene: MAPT ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751273
rs63751273
MAPT
0.040 GeneticVariation BEFREE Unexpectedly, we found that 4R NM human tau (hTau) exhibited abnormal dynamics in young mice that were lost with the P301L mutation, including elevated protein stability and hyperphosphorylation, which were associated with cognitive impairment in 5-month old rT1 mice. 31685653

2020
dbSNP: rs63751273
rs63751273
MAPT
0.040 GeneticVariation BEFREE Longitudinal evaluation of Tau-P301L transgenic mice reveals no cognitive impairments at 17 months of age. 29568692

2018
dbSNP: rs63751273
rs63751273
MAPT
0.040 GeneticVariation BEFREE Altogether, these results suggest a sex dependent neuroprotective effect of LFPD in P301L-tg mice, suggesting that lifestyle intervention strategies may be clinically relevant for delaying the onset of cognitive impairment and dementia, especially in females. 28456717

2017
dbSNP: rs63751273
rs63751273
MAPT
0.040 GeneticVariation BEFREE Here, we studied the effects of P301L hTau transduction in the medial EC (MEC) of mice on tau phosphorylation and accumulation, and cognitive deficit. 28634382

2017
dbSNP: rs63750756
rs63750756
MAPT
0.020 GeneticVariation BEFREE We previously established a transgenic mouse with human N279K mutant tau as a model for FTDP-17, which showed cognitive dysfunctions caused by the mutant. 22169201

2012
dbSNP: rs63750756
rs63750756
MAPT
0.020 GeneticVariation BEFREE The behavioral phenotype of N279K mice mimics features of human FTDP-17 and provides a basic model for elucidating mechanisms underlying cognitive deficits in not only FTDP-17, but also diverse tauopathies. 16219306

2005
dbSNP: rs63751438
rs63751438
MAPT
0.010 GeneticVariation BEFREE Here, we found that LA supplementation effectively inhibited the hyperphosphorylation of Tau at several AD-related sites, accompanied by reduced cognitive decline in P301S Tau transgenic mice. 29126071

2018
dbSNP: rs63750424
rs63750424
MAPT
0.010 GeneticVariation BEFREE Our results prove that combination of the V337M and R406W mutations of tau accelerates human tau phosphorylation and induces tau pathology as well as cognitive deficits, making this model a suitable tool for basic research on tau as well as in vivo drug testing. 22797329

2013