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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Psen1tm4.1Shn
targeted mutation 4.1, Jie Shen
MGI:5751732
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Psen1tm4.1Shn/Psen1tm4.1Shn involves: 129 * C57BL/6 * C57BL/6J MGI:5754378
cn2
Psen1tm2Shn/Psen1tm4.1Shn
Psen2tm1Haa/Psen2tm1Haa
Tg(Camk2a-cre)1Shn/0
involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA MGI:5754385
cx3
Psen1tm4.1Shn/Psen1+
Psen2tm1Haa/Psen2tm1Haa
involves: 129 * C57BL/6 * C57BL/6J MGI:5754382
cx4
Psen1tm4.1Shn/Psen1+
Tg(PDGFB-APP)5Lms/0
involves: 129 * C57BL/6 * C57BL/6J * DBA/2 MGI:5754380
cx5
Psen1tm4.1Shn/Psen1+
Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
involves: 129 * C57BL/6 * C57BL/6J * DBA/2 MGI:5754381


Genotype
MGI:5754378
hm1
Allelic
Composition
Psen1tm4.1Shn/Psen1tm4.1Shn
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm4.1Shn mutation (0 available); any Psen1 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo

limbs/digits/tail

nervous system
• thinning of the ventricular zone within the developing telencephalon at E16.5
• number of proliferating cells is reduced in the ventricular zone
• thinning of the ventricular zone within the lateral ganglionic eminence at E16.5




Genotype
MGI:5754385
cn2
Allelic
Composition
Psen1tm2Shn/Psen1tm4.1Shn
Psen2tm1Haa/Psen2tm1Haa
Tg(Camk2a-cre)1Shn/0
Genetic
Background
involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm2Shn mutation (1 available); any Psen1 mutation (46 available)
Psen1tm4.1Shn mutation (0 available); any Psen1 mutation (46 available)
Psen2tm1Haa mutation (0 available); any Psen2 mutation (31 available)
Tg(Camk2a-cre)1Shn mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in the neocortex and hippocampus
• 31.5% reduction in cortical volume at 18 months of age
• increase in apoptosis in the neocortex
• in the cortex
• 22.1% reduction in neuron number in the cerebral cortex at 18 months of age
• mice exhibit age-dependent neurodegeneration throughout the cerebral cortex

hematopoietic system
• in the neocortex and hippocampus

immune system
• in the neocortex and hippocampus

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 J:219929




Genotype
MGI:5754382
cx3
Allelic
Composition
Psen1tm4.1Shn/Psen1+
Psen2tm1Haa/Psen2tm1Haa
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm4.1Shn mutation (0 available); any Psen1 mutation (46 available)
Psen2tm1Haa mutation (0 available); any Psen2 mutation (31 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• in the hidden-platform Morris water maze, mice exhibit higher latencies across the 14 day training period and show lower target quadrant occupancy in the probe test at day 7, indicating impaired reference memory acquisition
• although mice show similar target quadrant occupancies in the probe trial at da 13, they exhibit reduced target quadrant occupancy under partial-cue conditions in the probe trail at day 14, suggesting impaired hippocampal pattern completion
• in a spatial discrimination version of the radial arm maze task, mutants show more reference memory errors and a higher proportion of 45 degree turns into adjacent arms, indicating hippocampal spatial memory deficits

nervous system
• mice exhibit impaired short-term and long-term synaptic plasticity at hippocampal CA1 and CA3 synapses
• long-term potentiation (LTP) at the Schaffer collateral-CA1 synapses induced by pairing presynaptic stimuli with postsynaptic depolarization is reduced
• LTP is impaired at commissural/associational (C/a)-CA3 synapses
• however, NMDAR-mediated EPSCs are unaffected
• short-term depression during the initial phase of the LTP-inducing stimulus train is increased at (C/A)-CA3 synapses
• mice show impaired short-term plasticity as indicated by reduced paired-pulse facilitation and frequency facilitation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 J:219929




Genotype
MGI:5754380
cx4
Allelic
Composition
Psen1tm4.1Shn/Psen1+
Tg(PDGFB-APP)5Lms/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm4.1Shn mutation (0 available); any Psen1 mutation (46 available)
Tg(PDGFB-APP)5Lms mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
N
• no amyloid plaque deposition is seen in the cerebral cortex even at 18 months of age




Genotype
MGI:5754381
cx5
Allelic
Composition
Psen1tm4.1Shn/Psen1+
Zbtb20Tg(PDGFB-APPSwInd)20Lms/0
Genetic
Background
involves: 129 * C57BL/6 * C57BL/6J * DBA/2
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm4.1Shn mutation (0 available); any Psen1 mutation (46 available)
Zbtb20Tg(PDGFB-APPSwInd)20Lms mutation (1 available); any Zbtb20 mutation (55 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• accelerated amyloid deposition in the cerebral cortex at 9 months of age compared to single Tg(PDGFB-APPSwInd)20Lms hemizygotes

nervous system
• accelerated amyloid deposition in the cerebral cortex at 9 months of age compared to single Tg(PDGFB-APPSwInd)20Lms hemizygotes





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory