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A fragment of the rat Mapt promoter drives expression of a human MAPT cDNA coding for the short four repeat isoform, containing 2 pathogenic mutations, K257T and P301S. Expression of the mutant MAPT protein is about 5-10% that of the endogenous protein. (J:137947)
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
