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Human Disease and Mouse Model Detail
Human Disease

Term: Alzheimer Disease 3
OMIM ID: 607822

Synonyms Ad3; Alzheimer Disease 3, Early-Onset
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
Psen1 PSEN1
  mousehuman...both mouse and human orthologous genes.
     
Transgenes and
other mutation types
Tg(APP695)3Dbo   Characteristics of this human disease are associated with transgenes and other mutation types in mouse.
Tg(APPswe,PSEN1dE9)85Dbo
Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas
Tg(PSEN1)5Dbo
Tg(PSEN1dE9)S9Dbo
Tg(PSEN1H163R)G9Btla
Tg(Thy1-APP)28Lpr

Mouse Models

Genotype Ref(s)
Allelic Composition Note Genetic Background
Models with phenotypic similarity to human disease where etiologies involve orthologs.1
Psen1tm1Lpr/Psen1tm1Lpr
Tg(Thy1-APPSL)28Lpr/0
  either: 129/Sv or (involves: 129/Sv * C57BL/6) J:93770
Psen1tm1Mpm/Psen1tm1Mpm   involves: 129S1/Sv * 129X1/SvJ * C57BL/6 J:51950
Psen1tm1Mpm/Psen1tm1Pcw   involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6 J:91277
Psen1tm1Shn/Psen1tm1Shn   involves: 129S7/SvEvBrd * C57BL/6 J:40365
Psen1tm1Vln/Psen1tm1Vln
Tg(Thy1-cre)1Vln/0
4 involves: FVB/N J:87229
Models involving transgenes or other mutation types.2
Psen1tm1Lpr/Psen1tm1Lpr
Tg(Thy1-APPSL)28Lpr/0
  either: 129/Sv or (involves: 129/Sv * C57BL/6) J:93770
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
  involves: C3H/HeJ * C57BL/6J J:123534
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
  B6.Cg-Tg(APP695)3Dbo Tg(PSEN1dE9)S9Dbo/Mmjax J:157228
Tg(APP695)3Dbo/0
Tg(PSEN1)5Dbo/0
  involves: C3H/HeJ * C57BL/6J J:43788
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
  involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J J:123534
Tg(APPswe,PSEN1dE9)85Dbo/0   B6C3-Tg(APPswe,PSEN1dE9)85Dbo/Mmjax J:113199
Tg(APPswe,PSEN1dE9)85Dbo/0   involves: C3H/HeJ * C57BL/6J J:87691, J:113200
Tg(APPSwFlLon,PSEN1*M146L*L286V)6799Vas/0   involves: C57BL/6 * SJL J:112949
Tg(PSEN1dE9)S9Dbo/0   involves: C3H/HeJ * C57BL/6J J:104147
Tg(PSEN1H163R)G9Btla/0   involves: 129S4/SvJae J:58050
No similarity to the expected human disease phenotype was found.3
NOT Psen1tm1Psgh/Psen1tm1Psgh   Not Specified J:66016

1Human genes are associated with this disease. Mouse model genotypes include mutations in the orthologs of these human genes.
2Models involving transgenes or other mutation types may also appear in other sections of the table.
3One or more human genes are associated with this human disease. The mouse genotype may involve mutations to orthologs of one or more of those genes, but the phenotype did not resemble the disease.
4Conditionally targeted allele(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2013
MGI 5.12
The Jackson Laboratory