The targeting vector was designed to substitute an arginine for isoleucine at amino acid position 13 by introducing two point mutations into the arginine codon (CGC to ATC). A loxP-flanked Neomycin cassette also was included in the construct. The R13I mutation is located on a 10 kb long arm fragment 300 bp downstream of exon 7. Cre-mediated recombination removed the loxP-flanked neo. Expression of APP protein is not affected. (J:241632)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count