Arginine codon 47 (CGC) in exon 2 was changed to histidine CAC (NM_031254.3:c.140 G>A, p.R47H) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 2. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation is the equivalent of the same human mutation associated with Alzheimer's disease (AD). (J:304182)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count