A human PSEN1 cDNA with a mutation in the codon for amino acid residue 384 causing a glycine to alanine change (G384A) was placed under the control of the murine Thy1.2 minigene. This mutant form is known to increase Abeta1-42 production. (J:92796, J:163811)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count