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Phenotypes Associated with This Genotype
Genotype
MGI:2174994
Allelic
Composition
Psen1tm1Mpm/Psen1tm1Mpm
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Mpm mutation (4 available); any Psen1 mutation (46 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• kainate-induced degeneration and death of CA3, CA1, and hilar neurons is accelerated and increased in mutants compared to wild-type
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction
• homozygotes are hypersensitive to seizure-induced synaptic degeneration and necrotic neuronal death in the hippocampus

behavior/neurological
N
• homozygotes do not exhibit a deficit in contextual fear learning at 3 months of age (J:91277)
• homozygous mice do not differ in performance in Morris water maze or in contextual fear conditioning (J:99604)

homeostasis/metabolism
• kainate-induced degeneration and death of CA3, CA1, and hilar neurons is accelerated and increased in mutants compared to wild-type
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction

cellular
• kainate-induced degeneration and death of CA3, CA1, and hilar neurons is accelerated and increased in mutants compared to wild-type
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 J:51950
Alzheimer's disease 3 DOID:0110042 OMIM:607822
J:51950


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
04/16/2024
MGI 6.23
The Jackson Laboratory