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The transgenic construct contains sequence encoding a mutant deltaK280 four-repeat domain of human MAPT protein (Q244-E372) under the control of the mouse Prnp gene promoter and the tetO, tetracycline-responsive regulatory element (from the moPrP-tetP vector; 42-bp tet operator sequence copies followed by the constitutively active, minimal human cytomegalovirus promoter). Frontotemporal dementia and parkinsonism is linked to human chromosome 17 Lysine 280 deletion (deltaK280 or K280del). The Lys280 deletion accelerates aggregation of MAPT (Tau). (J:240784)
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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References Literature
Title
PMID
Journal
Year
IF
