Phenotypes Associated with This Genotype

Genotype
MGI:5754382

• Allelic Composition: Psen1^tm4.1Shn/Psen1⁺; Psen2^tm1Haa/Psen2^tm1Haa
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal spatial reference memory ( J:219929 )

• 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

nervous system

impaired synaptic plasticity ( J:219929 )

• mice exhibit impaired short-term and long-term synaptic plasticity at hippocampal CA1 and CA3 synapses

reduced long-term potentiation ( J:219929 )

• 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

increased synaptic depression ( J:219929 )

• short-term depression during the initial phase of the LTP-inducing stimulus train is increased at (C/A)-CA3 synapses

decreased paired-pulse facilitation ( J:219929 )

• mice show impaired short-term plasticity as indicated by reduced paired-pulse facilitation and frequency facilitation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:219929