Posted 1 April 2005
Transgene: The human wild-type PS1 transgene under the control of human Thy-1 promoter
was generated by ligating a 1.4 kb KpnI-BamHI fragment containing PS1 cDNA sequence
with a KpnI-BglII-cleaved pHZ024 vector, which contains the human Thy-1 promoter.
Mutation: Hwt PS1
Mouse Strain: B6SJLF1
Human PS1 transgenic mice were mated with heterozygous PS1 knockout
) (Wong, 1997). Transgenic mouse lines expressing human wtPS1 with the A246E FAD
mutation can rescue the PS1 knockout mouse from embryonic lethality, indicating
that the mutation does not lead to loss of PS1 function during development. Furthermore,
a 50% reduction of PS1 activity in PS1(+/-) mice does not lead to Aβ1-42/43
increase, whereas expression of human mutant PS1 on murine PS1 null background is
sufficient to elevate Aβ1-42/43, supporting a gain-of-function activity as
the result of the PS1 mutation.
No overt abnormalities were observed in the mutant human PS1 transgenic mice.
Huffington Center on Aging
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX 77030
Phone: (713) 798-1568
Fax: (713) 798-1610
Patent No.: 6,452,065 B2
Title: Transgenic mouse expressing non-native wild-type and familial Alzheimer's
disease mutant presenilin 1 protein on native presenilin 1 null background
Assignee/Inventors: H. Zheng, P. Jiang, S. Qian, L. Van der Ploeg, P. C. Wong, S.
Filing Date: 5/14/98
Issue Date: 9/17/02
Su Qian, Ping Jiang, Xiao-Ming Guan, Gurparkash Singh, Myrna E. Trumbauer, Hong
Yu, Howard Y. Chen, Lex H. T. Van der Ploeg and Hui Zheng. Mutant Human Presenilin
1 Protects presenilin 1 Null Mouse against Embryonic Lethality and Elevates Ab1-42/43
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H.Y. Chen, D.L. Price, L.H.T. Van der Ploeg and S.S. Sisodia. Presenilin is required
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