Symbol
Name
ID

Psen1
presenilin 1
MGI:1202717

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Dysphagia

Spastic tetraparesis

Gliosis

Amyotrophic lateral sclerosis

Cerebral cortical atrophy

Neurofibrillary tangles

Alzheimer disease

Neuronal loss in central nervous system

Optic ataxia

Abnormality of extrapyramidal motor function

Parkinsonism

Apraxia

Myoclonus

Babinski sign

Echolalia

Dysarthria

Language impairment

Emotional blunting

Irritability

Disturbed sensory perception

Perseverative thought

Diminished motivation

Apathy

Abnormal sexual behavior

Inappropriate laughter

Personality changes

Polyphagia

Disinhibition

Motor stereotypy

Hyperorality

Memory impairment

Dementia

Frontal lobe dementia

Frontotemporal dementia

Lower limb hyperreflexia

Primitive reflex

Dystonia

Gait disturbance

Seizure

Disease(s) Associated with PSEN1

Alzheimer's disease 3

frontotemporal dementia

Pick's disease

Mouse Phenotypes

nervous system phenotype

abnormal brain vasculature morphology

intracranial hemorrhage

intracerebral hemorrhage

intraventricular hemorrhage

spinal hemorrhage

increased susceptibility to neuronal excitotoxicity

abnormal neuron differentiation

premature neuronal precursor differentiation

abnormal neuronal migration

abnormal neuronal precursor proliferation

amyloid beta deposits

abnormal brain morphology

abnormal hippocampus development

abnormal cortical marginal zone morphology

decreased Cajal-Retzius cell number

thin cortical plate

abnormal cortical ventricular zone morphology

small embryonic telencephalon

dilated lateral ventricle

abnormal third ventricle morphology

abnormal diencephalon morphology

abnormal dentate gyrus morphology

abnormal cerebral cortex morphology

abnormal stratification in cerebral cortex

temporal lobe atrophy

neurofibrillary tangles

tau protein deposits

abnormal meninges morphology

abnormal lateral ganglionic eminence morphology

decreased neuronal precursor cell number

increased neuronal precursor cell number

neuron degeneration

fused dorsal root ganglion

neurodegeneration

abnormal long-term potentiation

Availability

Mouse Genotype

Psen1^tm1Bdes/Psen1^tm1Bdes

Psen1^tm1Dgf/Psen1^tm1Dgf

Psen1^tm1Hko/Psen1^tm1Hko

Psen1^tm1Mpm/Psen1^tm1Mpm

Psen1^tm1Pcw/Psen1^tm1Pcw

Psen1^tm1Shn/Psen1^tm1Shn

Psen1^tm1Shs/Psen1^tm1Shs

Psen1^tm2.1Shn/Psen1^tm2.1Shn

Psen1^tm3.1Shn/Psen1^tm3.1Shn

Psen1^tm4.1Shn/Psen1^tm4.1Shn

Psen1^tm5.1Shn/Psen1^tm5.1Shn

Psen1^tm1Mpm/Psen1^tm1Pcw

Psen1^tm1Tak/Psen1⁺

Psen1^tm1Jzt/Psen1^tm1Jzt
Tg(Camk2a-cre)T29-1Stl/0 (conditional)

Psen1^tm1Vln/Psen1^tm1Vln
Tg(Thy1-cre)1Vln/0 (conditional)

Psen1^tm2Shn/Psen1^tm2Shn
Tg(Camk2a-cre)1Shn/0 (conditional)

Psen1^tm2Shn/Psen1^tm2.1Shn
Tg(Camk2a-cre)1Shn/0 (conditional)

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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