Exon 8 was replaced with a neo cassette and a modified exon 8 in which a G to T mutation results in the amino acid substitution of isoleucine for arginine at position 278 (R278I), mimicking a mutation found in a pedigree bearing atypical Alzheimer's disease with language impairment. Cre-mediated recombination removed the neo cassette. (J:175901)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count