Analysis Tools
normal phenotype
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• mice develop normally and exhibit normal brain architecture and skeleton
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Allele Symbol Allele Name Allele ID |
Psen2tm1Haa targeted mutation 1, Christian Haass MGI:2664242 |
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| Summary |
6 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mice develop normally and exhibit normal brain architecture and skeleton
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• in the neocortex and hippocampus
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• 31.5% reduction in cortical volume at 18 months of age
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• increase in apoptosis in the neocortex
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• in the cortex
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• 22.1% reduction in neuron number in the cerebral cortex at 18 months of age
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• mice exhibit age-dependent neurodegeneration throughout the cerebral cortex
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• in the neocortex and hippocampus
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• in the neocortex and hippocampus
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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 |
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• showed a transient phenotype in embryo-deleted skin but developed a normal coat by P22 with a few abnormal looking follicles
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• died after weaning, with the longest survivor dying at P30
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• hyperplasia of the esophagus most likely leading to premature death
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• did not detect mature sebocytes in embryo-deleted hair follicles
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• hyperplasia of the esophagus most likely leading to premature death
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• by P22, keratinized cysts replaced embryo-deleted hair follicles
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• smaller than controls by P12
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• did not detect mature sebocytes in embryo-deleted hair follicles
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• by P22, keratinized cysts replaced embryo-deleted hair follicles
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• mutants had regions with normal hair and naked skin patches that were separated by regions covered with short hairs presumably the result of different timing of Cre expression
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• had naked skin patches
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• had regions of short hairs
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• an epithelial cluster formed an unusual flat boundary with the dermal papilla in P0 embryo-deleted mutant follicles
• at P4, the upper part of embryo-deleted follicles contained loosely packed cells with enlarged cytoplasm and small nuclei and at P8, these loosely packed cells extended farther down to the matrix
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• inner root sheath cells fail to accumulate by P7 but the outer root sheath was normal at P8
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• all cell layers of embryo-deleted follicles except the outer root sheath and the Dermal Papilla appeared to have collapsed around the melanin-containing core at P8
• At P12 and P15, degenerating embryo-deleted follicles lost contact with their Dermal Papilla and the outer root sheath began to proliferate, stratify, and keratinize
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• exhibited epidermal hyperproliferation
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• embryo-deleted epidermis at P8 was acanthotic and hyperkeratotic
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• naked skin patches became scaly
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• naked skin patches became thick
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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 |
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• mild impairment of spatial memory in a Morris water maze
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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 04/23/2024 MGI 6.23 |
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