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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(PSEN1dE9)S9Dbo
transgene insertion S9, David R Borchelt
MGI:3618599
Summary 8 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
B6.Cg-Tg(APP695)3Dbo Tg(PSEN1dE9)S9Dbo/Mmjax MGI:4437308
cx2
Sorl1tm1Tew/Sorl1tm1Tew
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
involves: 129 * C3H/HeJ * C57BL/6 MGI:5050413
cx3
Bace1tm1Pcw/Bace1tm1Pcw
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J MGI:3720944
cx4
Bace1tm1Pcw/Bace1+
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J MGI:3720945
cx5
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J MGI:3720946
cx6
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
involves: C3H/HeJ * C57BL/6J MGI:3639713
cx7
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Not Specified MGI:3837363
tg8
Tg(PSEN1dE9)S9Dbo/0 involves: C3H/HeJ * C57BL/6J MGI:3618601


Genotype
MGI:4437308
cx1
Allelic
Composition
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
B6.Cg-Tg(APP695)3Dbo Tg(PSEN1dE9)S9Dbo/Mmjax
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(APP695)3Dbo mutation (3 available)
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system

homeostasis/metabolism

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Alzheimer's disease 3 DOID:0110042 OMIM:607822
J:157228




Genotype
MGI:5050413
cx2
Allelic
Composition
Sorl1tm1Tew/Sorl1tm1Tew
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
involves: 129 * C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sorl1tm1Tew mutation (0 available); any Sorl1 mutation (66 available)
Tg(APP695)3Dbo mutation (3 available)
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• amyloid beta levels and amyloid plaque burden are increased at 4.5 and 6 months of age, but not at 12 months of age, compared to transgenic mice wild-type for Sorl1 suggesting an acceleration in accumulation of amyloid beta
• some of the largest differences in amyloid measures are detected in the cerebellum

homeostasis/metabolism
• amyloid beta levels and amyloid plaque burden are increased at 4.5 and 6 months of age, but not at 12 months of age, compared to transgenic mice wild-type for Sorl1 suggesting an acceleration in accumulation of amyloid beta
• some of the largest differences in amyloid measures are detected in the cerebellum

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 OMIM:104300
OMIM:502500
OMIM:604154
OMIM:608907
J:142501




Genotype
MGI:3720944
cx3
Allelic
Composition
Bace1tm1Pcw/Bace1tm1Pcw
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1tm1Pcw mutation (1 available); any Bace1 mutation (12 available)
Tg(APP695)3Dbo mutation (3 available)
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice perform as well as control mice in platform and probe trials in Morris water maze tasks
• in open field test, mice are similar to Bace1tm1Pcw homozygotes, and spend more time in open area at center of field than at periphery
• swim speed is lower than other genotypes and nontransgenic mice in hidden and visible platform trials

nervous system
N
• in 12- or 20-month old mice, no amyloid beta (Abeta) aggregation is detected in brains; no amyloid deposits are found




Genotype
MGI:3720945
cx4
Allelic
Composition
Bace1tm1Pcw/Bace1+
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bace1tm1Pcw mutation (1 available); any Bace1 mutation (12 available)
Tg(APP695)3Dbo mutation (3 available)
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice are significantly impaired in Morris water maze tasks

nervous system
• high level of amyloid beta aggregates are found in brain at 12 months of age

homeostasis/metabolism
• in 12-month old brains, there is a 27% reduction in amyloid beta aggregates compared to transgenic mice that are wild-type for Bace1; there are no significant differences at 20 months
• in 12-month old brains, there is 37% reduction in percentage of brain volume occupied by amyloid beta deposits, but no difference at 20 months
• high level of amyloid beta aggregates are found in brain at 12 months of age




Genotype
MGI:3720946
cx5
Allelic
Composition
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(APP695)3Dbo mutation (3 available)
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• mice travel shorter distance in open-field and show less activity or excursions into central area; mice remain near periphery of apparatus rather than entering open center of field
• 16-18 month-old mice swim farther to find platform and spend less time in platform vicinity than controls

nervous system
• one month following neuron injection with virus expressing short hairpin RNA to silence Bace1, there is a 38% reduction in amyloid beta burden in hippocampus compared to uninjected hippocampus

homeostasis/metabolism
• mice display amyloid beta aggregates at 12 and 20 months
• one month following neuron injection with virus expressing short hairpin RNA to silence Bace1, there is a 38% reduction in amyloid beta burden in hippocampus compared to uninjected hippocampus




Genotype
MGI:3639713
cx6
Allelic
Composition
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(APP695)3Dbo mutation (3 available)
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• develops diffuse, compact, birefringent congophilic plaques in cortex and hippocampus (J:87691)
• ratio of amyloid beta peptide 40:42 is 0.75:1 (J:87691)
• 150% increase in amyloid beta peptide 42 (J:87691)
• at 7 months of age, mice exhibit amyloid plaques in the hippocampus and cortex (J:104236)

homeostasis/metabolism
• develops diffuse, compact, birefringent congophilic plaques in cortex and hippocampus (J:87691)
• ratio of amyloid beta peptide 40:42 is 0.75:1 (J:87691)
• 150% increase in amyloid beta peptide 42 (J:87691)
• at 7 months of age, mice exhibit amyloid plaques in the hippocampus and cortex (J:104236)




Genotype
MGI:3837363
cx7
Allelic
Composition
Tg(APP695)3Dbo/0
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(APP695)3Dbo mutation (3 available)
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• increase in microglial cell activity in retina is observed in 12-15 month old transgenics
• microglia processes in the retina are thicker and display a dendritic-like appearance as compared to control
• microglia density, but not cell body size, is increased in transgenics
• thioflavine-S positive plaques are observed in the retina beginning at 12 months of age
• plaques have radial branches with a central core
• plaque size ranges from 5-20 um, larger plaques are observed at 15-16 months
• plaques appear earlier in females than in males and increase in number over time
• 100% of females and 75% of males have plaques in retina by 15-16 months
• distribution of amacrine cell processes is disrupted as determined by syntaxin 1 staining

vision/eye
• thioflavine-S positive plaques are observed in the retina beginning at 12 months of age
• most plaques (34.7% and 41% respectively) are found in the inner and outer plexiform layers
• thickness of the retinal nuclear layers is similar to control, suggesting that there is no obvious neuronal cell loss
• distribution of amacrine cell processes is disrupted as determined by syntaxin 1 staining
• thioflavine-S positive plaques are first observed in females in the IPL at 12 months
• plaques are first observed in males at 13 months
• plaques are embedded within IPL cholinergic bands
• thioflavine-S positive plaques are first observed in females in the OPL at 12 months
• plaques are first observed in males at 13 months
• amplitudes of a and b waves are decreased in 12-16 month old mice when tested at lower light intensity, but not a higher intensity
• latency and implicit time as determined by ERG measurement are similar to control

immune system
• increase in microglial cell activity in retina is observed in 12-15 month old transgenics
• microglia processes in the retina are thicker and display a dendritic-like appearance as compared to control
• microglia density, but not cell body size, is increased in transgenics

hematopoietic system
• increase in microglial cell activity in retina is observed in 12-15 month old transgenics
• microglia processes in the retina are thicker and display a dendritic-like appearance as compared to control
• microglia density, but not cell body size, is increased in transgenics

homeostasis/metabolism
• thioflavine-S positive plaques are observed in the retina beginning at 12 months of age
• plaques have radial branches with a central core
• plaque size ranges from 5-20 um, larger plaques are observed at 15-16 months
• plaques appear earlier in females than in males and increase in number over time
• 100% of females and 75% of males have plaques in retina by 15-16 months




Genotype
MGI:3618601
tg8
Allelic
Composition
Tg(PSEN1dE9)S9Dbo/0
Genetic
Background
involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(PSEN1dE9)S9Dbo mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• immunoblotting of of cortical and hippocampal extracts from transgenic mice under conditions that distinguish mouse and human full-length PSEN1 and its endoproteolytic derivatives demonstrates failure of the transgenic protein to undergo endoproteolysis and, instead, accumulation of the full-length mutant human protein in the brain
• endoproteolytic cleavage products of endogenous mouse PSEN1 are 70-90% less abundant in brains of transgenic than of wild-type mice; however, failure of its cleavage does not result in accumulation of the full-length mouse protein






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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory