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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 (2 available); any Psen1 mutation (22 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 (J:51950)
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction (J:51950)
• kainate-induced degeneration and death of CA3, CA1, and hilar neurons is accelerated and increased in mutants compared to wild-type (J:51950)
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction (J:51950)
• homozygotes are hypersensitive to seizure-induced synaptic degeneration and necrotic neuronal death in the hippocampus (J:51950)
• homozygotes are hypersensitive to seizure-induced synaptic degeneration and necrotic neuronal death in the hippocampus (J:51950)

behavior/neurological
N
• homozygotes do not exhibit a deficit in contextual fear learning at 3 months of age (J:91277)
• 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)
• 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 (J:51950)
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction (J:51950)
• kainate-induced degeneration and death of CA3, CA1, and hilar neurons is accelerated and increased in mutants compared to wild-type (J:51950)
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction (J:51950)

cellular
• kainate-induced degeneration and death of CA3, CA1, and hilar neurons is accelerated and increased in mutants compared to wild-type (J:51950)
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction (J:51950)
• kainate-induced degeneration and death of CA3, CA1, and hilar neurons is accelerated and increased in mutants compared to wild-type (J:51950)
• cultured hippocampal neurons show increased susceptibility to death induced by glutamate, due to impaired calcium homeostasis, increased oxidative stress, and mitochondrial dysfunction (J:51950)

Mouse Models of Human Disease
OMIM ID Ref(s)
Alzheimer Disease 3 607822 J:51950
Alzheimer Disease; AD 104300 J:51950


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory