Stem Cell Related Patent Number US6284944

Gene-targeted non-human mammal with a human fad presenilin mutation and generational offspring

Scott, Richard W.; West Chester, PA, USA
Reaume, Andrew G.; West Chester, PA, USA
Dorfman, Karen; West Chester, PA, USA

This invention discloses a gene-targeted non-human mammal and generational offspring with a gene encoding a mutant protein product of a mutated presenilin 1 gene (PS-1). More specifically, described herein is a gene-targeted mouse heterozygous or homozygous for the human presenilin-1 mutation P264L, with respect to the gene sequence encoding the mutant protein product of PS-1 which has been mutated to contain the human P264L mutation. Methods for screening chemical compounds using such mammals are also disclosed. From the active PS-1 protein comprising the human P264L mutation, the PS-1 protein is expressed, wherein the A?42 protein level is elevated relative to the A?42 protein level in a wild-type mouse. Also provided are uses of this model to elucidate the role of the presenilin-1 mutation in the pathology and symptomatology of Alzheimer’s disease.

Application Number: US1998000041185

Date Filed: 03/10/98

Dated Published: 09/04/01

Assignee: Cephalon, Inc,, West Chester, PA, USA