Analysis Tools|
Allele Symbol Allele Name Allele ID |
Psen1+ wild type MGI:1859890 |
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| Summary |
9 genotypes
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Data Sources
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice show increased levels of amyloid beta(1-42) peptide, however amyloid beta fails to deposit in the brains
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• mice exhibit formation of tau inclusions starting at 7 months of age
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• some hippocampal neurons exhibit Congo red birefringence and Thioflavin T reactivity, indicating neurofibrillary tangles
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Alzheimer's disease 3 | DOID:0110042 |
OMIM:607822 |
J:108326 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 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
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• mice exhibit impaired short-term and long-term synaptic plasticity at hippocampal CA1 and CA3 synapses
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• 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
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• short-term depression during the initial phase of the LTP-inducing stimulus train is increased at (C/A)-CA3 synapses
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• mice show impaired short-term plasticity as indicated by reduced paired-pulse facilitation and frequency facilitation
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Alzheimer's disease | DOID:10652 | J:219929 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• no amyloid plaque deposition is seen in the cerebral cortex even at 18 months of age
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• accelerated amyloid deposition in the cerebral cortex at 9 months of age compared to single Tg(PDGFB-APPSwInd)20Lms hemizygotes
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• accelerated amyloid deposition in the cerebral cortex at 9 months of age compared to single Tg(PDGFB-APPSwInd)20Lms hemizygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 3-fold increase in spleen weight/body weight ratio
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• an increase in the CD4+/CD8+ ratio
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• severe leukocytosis
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• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue
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• enlarged lymph nodes result in the swelling of the ventrolateral neck
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• develop an autoimmune phenotype in late adulthood (after 6 months of age) exhibiting features of systemic lupus erythematosus
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• increase in levels of anti-ssDNA IgG antibody levels
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• mutants exhibit increased concentration of serum gamma-globulins and alpha1-globulins and a decrease of albumin
• leukocyte invasions and Ig deposits are seen in the skin and kidney, and to a lesser extent in liver, skeletal muscle and salivary glands, most often associated with blood vessels and stroma and less so with the parenchyma
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• arteries in most tissues, but especially in skin and kidney, are surrounded and invaded by leukocytes, similar to that seen in human leukocytoclastic autoimmune vasculitis
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• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized
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• leukocyte aggregates are mostly in the vicinity of larger blood vessles and also invade the glomerula of the parenchyma; Ig deposits are also seen in the glomerula
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• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages
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• variable severity of keratitis: dense leukocyte infiltrates are concentrated in the outer half of the corneal stroma, which is thickened and vascularized
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• sometimes the epithelium exhibits focal dysplasia characterized by an irregular thickening and a loss of its normal stratification
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• low-level microproteinuria
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• leukocyte aggregates are mostly in the vicinity of larger blood vessles and also invade the glomerula of the parenchyma; Ig deposits are also seen in the glomerula
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• arteries in most tissues, but especially in skin and kidney, are surrounded and invaded by leukocytes, similar to that seen in human leukocytoclastic autoimmune vasculitis
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• 3-fold increase in spleen weight/body weight ratio
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• an increase in the CD4+/CD8+ ratio
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• severe leukocytosis
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• hypergammaglobulinemia; immunoglobulin deposits are seen along the basal lamina and in the subjacent connective tissue
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• low-level microproteinuria
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• skin of aged mutants has multifocal invasion of corium and subcutis by leukocytes (predominantly lymphocytes), often forming large nodular aggregates
• inflammation involves a mixed population of cells consisting of B- and T-lymphocytes and macrophages
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• skin contains numerous intraepithelial keratin 'horn' cysts and a highly papillomatotic interface to the underlying corium
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• 75% of mutants aged between 6 and 18 months of age develop wart-like protrusions and exulcerations of the skin
• skin lesions resemble human seborrheic keratosis
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• 75% of mutants aged between 6 and 18 months of age develop exulcerations of the skin
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• skin develops numerous intraepithelial keratin 'horn' cysts in late adulthood (after 6 months of age)
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• skin develops numerous intraepithelial keratin 'horn' cysts in late adulthood (after 6 months of age)
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• 3-fold increase in spleen weight/body weight ratio
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| seborrheic keratosis | DOID:6498 |
OMIM:182000 |
J:91235 | |
| systemic lupus erythematosus | DOID:9074 |
OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 |
J:91235 | |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• double heterozygotes are viable and phenotypically normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutant mice are viable and phenotypically normal
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutants exhibit enhanced reactive gliosis compared to single Tg(APPSWE)2576Kha mice
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• accelerated onset of amyloid plaque deposition and increased amyloidogenic processing of APP compared to single Tg(APPSWE)2576Kha mice
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• accelerated onset of amyloid plaque deposition and increased amyloidogenic processing of APP compared to single Tg(APPSWE)2576Kha mice
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• mutants exhibit enhanced reactive gliosis compared to single Tg(APPSWE)2576Kha mice
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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 03/18/2025 MGI 6.24 |
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