A targeting construct comprising the following elements was inserted into the targeted locus: the human MAPT promoter, the cDNA for the truncated human Tau35 fragment (coding for the C-terminal half of the wild-type MAPT peptide, amino-acids 187-441) and sequence for an HA tag. The construct also contains genomic sequence containing the promoter and first three exons of the targeted gene, sequence that is missing in the ES cell line. After recombination, this results in the knocked-in human C-terminally HA-tagged gene inserted upstream of the now intact targeted locus in the opposite transcriptional direction. The expression from the allele is around 7.5% of the level of the endogenous orthologous gene. The truncated Tau peptide is associated with PSP (progressive supranuclear palsy) patients. (J:263643)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion
--
1
2
2

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

References Literature

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PMID
Journal
Year
IF
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