Analysis Tools|
Allele Symbol Allele Name Allele ID |
Psen2tm1Ber targeted mutation 1, Alan Bernstein MGI:1930939 |
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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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• interestingly, adult homozygotes are viable and display no discernible defects
• no abnormalities in somite segmentation or cardiac looping are observed at E8.5
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• by 10 months of age mutants have impaired performance in a novel object recognition test
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• by 10 months of age some mutants show increased activity in an open field test
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• a dramatic increase in apoptosis is seen in the degenerating forebrain
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• by 10 months of age mutant mice start to show reduced body weights compared to wild-type
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• the lateral ventricles are immensely enlarged compared to wild-type or single knockout mice
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• the third ventricle is immensely enlarged compared to wild-type or single knockout mice
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• the thickness of the corpus callosum is about a third that of controls
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• the thickness of the molecular layers between the CA1 pyramidal cells and dentate gyrus is significantly reduced
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• the cortex is about half the normal thickness and the 6 layers can no longer be distinguished
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• increased Gfap expression indicates that reactive astrogliosis occurs along with forebrain degeneration
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• changes in the expression of several markers indicate that neuronal atrophy occurs along with forebrain degeneration
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• degeneration is seen in the forebrain
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Alzheimer's disease | DOID:10652 | J:90685 | ||
| Alzheimer's disease 4 | DOID:0110040 |
OMIM:606889 |
J:90685 | |
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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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• double homozygotes die at E9-E9.5 probably due to cardiovascular failure
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• at E8.5, double homozygotes display underdeveloped second branchial arches
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• at E8.5, double homozygotes exhibit disorganization of the trunk paraxial mesoderm
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• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells
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• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore
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• at E8.5-E9, double homozygotes exhibit a kinked neural tube
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• at E8.5-E9, double homozygotes display abnormal somite segmentation
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• at E9-E9.5, double homozygotes exhibit chorioallantoic fusion defects
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• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells
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• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore
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• at E8.5-E9, double homozygotes exhibit a kinked neural tube
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• at E8.5 and E9, double homozygotes display loss of mesenchyme cells in the presumptive midbrain
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• at E8.5, double homozygotes show an apparent expanded forebrain
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• at E8.5 and E9, double homozygotes exhibit unlooped hearts
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• at E8.5, double homozygotes display underdeveloped second branchial arches
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• mutant embryos die between E9.5 and E13.5
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• at E9, mutant embryos display underdeveloped second branchial arches
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• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube
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• at E9, mutant embryos display a delay in the closure of the anterior neuropore
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• at E8.5-E9, mutant embryos display a variable phenotype, ranging from no somite segmentation to the formation of highly disorganized somites
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• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube
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• at E9, mutant embryos display a delay in the closure of the anterior neuropore
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• some mutant embryos exhibit heart looping delays at E8.5 and E9, whereas others show partial heart looping at E9
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• at E9, mutant embryos display underdeveloped second branchial arches
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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 12/10/2024 MGI 6.24 |
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