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FLASH GENE
Symbol PSEN1 contributors: mct/shn - updated : 12-06-2017
HGNC name presenilin 1
HGNC id 9508
ANIMAL & CELL MODELS
  • PS1-/- mice have skeletal and central nervous system defects and die shortly after natural birth
  • PS1/PS2 double-null mice die at embryonic day 9.5 with lack of somite segmentation, trunk ventral neural tubed disorganization, midbrain mesenchyme cell loss, anterior neuropore closure delays, and abnormal heart and second branchial arch development
  • mutations in the Caenorhabditis elegans presenilin genes sel-12 and hop-1 result in a defect in the temperature memory
  • mutant PS1 knockin mice primary fibroblastes exhibit a marked potentiation in the amplitude of calcium transients evoked by agonist stimulation and significant impairments in capacitative calcium entry
  • neurons overexpressing mutated PS1 showed an increased vulnerability to both excitotoxic and hypoxic-hypoglycemic damage
  • PS1 knockout mice or wt mice in which PS1 gene expression was knocked down by antisense treatment display reduced excitotoxic damage in neurons
  • neural proliferation and apoptotic cell death during neurogenesis are unaltered in PS1(-/-) mice and the premature neuronal differentiation is associated with aberrant neuronal migration and disorganization of the laminar architecture of the developing cerebral hemisphere
  • inactivation of PS1 function in the adult mice cerebral cortex leads to reduced Abeta generation and subtle cognitive deficits without affecting expression of Notch downstream genes
  • deleted PS1 gene in excitatory neurons of the adult mouse forebrain leads to pronounced deficiency in enrichment-induced neurogenesis in the dentate gyrus
  • mice co-expressing mutant human presenilin 1 and amyloid precursor proteins display acceleration of amyloid accumulation and associative learning deficits
  • conditional double knockout mice lacking both Psen1 and Psen2 in the postnatal forebrain exhibit impairments in hippocampal memory and synaptic plasticity and later develop striking neurodegeneration of the cerebral cortex
  • PS1+/-PS2-/- mice develop, up to six months, an autoimmune disease characterized by dermatitis, glomerulonephritis, keratitis and vasculitis
  • morpholinos directed against splice acceptor sites in zebrafish psen1 transcripts cause a hydrocephalus phenotype
  • neurons in PS1-deficient mice have lysosomal acidification deficits
  • PS1 deletion in blastocysts from constitutive PS1 KO mice selectively affects macroautophagic turnover of proteins, and cause defective clearance of autophagic vacuoles, defective lysosome acidification and proteolysis deficits in autolysosomes
  • Ps1/Ccl2KO mice developed robust age-dependent deficits in hippocampal neurogenesis associated with impairments in learning and memory, synaptic plasticity and long-term potentiation