The Arctic mutation, an A>G nucleotide substitution resulting in a glutamic acid to glycine amino acid substitution at codon 693 (E693G), was introduced into a human cDNA of APP (695 isoform) by site-directed mutagenesis and a Kozak sequence was introduced upstream of ATG to enhance translation. This construct was placed under the control of the mouse Thy1.2 expression cassette that drives expression of the transgene specifically in neurons. Two lines were made, M7 and M8. M8 is the high expressor line and hemizygous mice have an approximately 3-fold higher expression of human APP compared to endogenous App. (J:168288)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6 x CBA
--
Insertion
--
1
--
4

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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