The targeting vector is designed using a modified Ai3 (Gt(ROSA)26Sotm3(CAG-EYFP)Hze) vector with (from 5' to 3') a splice acceptor, a CMV-IE enhancer/chicken beta-actin/rabbit beta-globin hybrid promoter (CAG), a loxP-flanked STOP (with stop codons in all 3 reading frames and a triple polyA signal) cassette, human APP sequence containing the Iberian (I716F) mutation, a woodchuck hepatitis virus post-transcriptional regulatory element (WPRE), polyA sequence followed by an attB/attP flanked PGK-neo -PGKpA cassette. This entire construct was inserted between exons 1 and 2 of the Gt(ROSA)26Sor locus. The original report in Dis Model Mech 2022 indicated that both the Swedish and Iberian mutations were present in the allele, the allele has since been determined to carry only the Iberian mutation. In addition, an unintended mutation in the APP transmembrane domain, M647T by APP695 numbering (M722T by APP770 numbering) is present. This is not a known pathogenic mutation. (J:324255)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6N
Endonuclease-mediated
Insertion
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1

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

Title
PMID
Journal
Year
IF
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