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The promoter was used to drive neuron-specific expression of human MAPT with three point mutations that result in the following amino acid changes: G272V, P301L and R406W. These mutations have been identified in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). (J:73872)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
