Phenotypes associated with this allele

• Allele Symbol: Psen1^tm1Jzt
• Allele Name: targeted mutation 1, Joe Z Tsien
• Allele ID: MGI:2155978
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psen1^tm1Jzt/Psen1^tm1Jzt	involves: C57BL/6 * CBA	MGI:3045189
cn2	Psen1^tm1Jzt/Psen1^tm1Jzt Tg(Camk2a-cre)T29-1Stl/0	involves: C57BL/6 * CBA	MGI:3045183
cn3	Psen1^tm1Jzt/Psen1^tm1Jzt Psen2^tm1Ber/Psen2^tm1Ber Tg(Camk2a-cre)T29-1Stl/0	involves: C57BL/6 * CBA	MGI:3045186

Genotype
MGI:3045189

hm1

• Allelic Composition: Psen1^tm1Jzt/Psen1^tm1Jzt
• Genetic Background: involves: C57BL/6 * CBA

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

normal phenotype

no abnormal phenotype detected ( J:73252 )

• homozygous mice are indistinguishable from wild-type mice

Genotype
MGI:3045183

cn2

• Allelic Composition: Psen1^tm1Jzt/Psen1^tm1Jzt; Tg(Camk2a-cre)T29-1Stl/0
• Genetic Background: involves: C57BL/6 * CBA

behavior/neurological

abnormal contextual conditioning behavior ( J:73252 )

• exposure to environmental enrichment following contextual fear conditioning results in a significant increase in freezing responses during retention tests

cellular

decreased cell proliferation ( J:73252 )

• environmental enrichment induces significantly less neurogenesis in the dentate gyrus of the brain in mutants compared to wild-type controls

nervous system

abnormal dentate gyrus morphology ( J:73252 )

• following environmental enrichment the number of newborn neurons in the subgranular zone and molecular layer of the dentate gyrus are 39% and 48% less respectively compared to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:73252

Genotype
MGI:3045186

cn3

• Allelic Composition: Psen1^tm1Jzt/Psen1^tm1Jzt; Psen2^tm1Ber/Psen2^tm1Ber; Tg(Camk2a-cre)T29-1Stl/0
• Genetic Background: involves: C57BL/6 * CBA

behavior/neurological

abnormal object recognition memory ( J:90685 )

• by 10 months of age mutants have impaired performance in a novel object recognition test

hyperactivity ( J:90685 )

• by 10 months of age some mutants show increased activity in an open field test

cellular

abnormal apoptosis ( J:90685 )

• a dramatic increase in apoptosis is seen in the degenerating forebrain

growth/size/body

weight loss ( J:90685 )

• by 10 months of age mutant mice start to show reduced body weights compared to wild-type

nervous system

enlarged lateral ventricles ( J:90685 )

• the lateral ventricles are immensely enlarged compared to wild-type or single knockout mice

enlarged third ventricle ( J:90685 )

• the third ventricle is immensely enlarged compared to wild-type or single knockout mice

abnormal corpus callosum morphology ( J:90685 )

• the thickness of the corpus callosum is about a third that of controls

abnormal hippocampus molecular cell layer ( J:90685 )

• the thickness of the molecular layers between the CA1 pyramidal cells and dentate gyrus is significantly reduced

abnormal cerebral cortex morphology ( J:90685 )

• the cortex is about half the normal thickness and the 6 layers can no longer be distinguished

gliosis ( J:90685 )

• increased Gfap expression indicates that reactive astrogliosis occurs along with forebrain degeneration

abnormal neuron morphology ( J:90685 )

• changes in the expression of several markers indicate that neuronal atrophy occurs along with forebrain degeneration

neurodegeneration ( J:90685 )

• degeneration is seen in the forebrain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alzheimer's disease		DOID:10652		J:90685
Alzheimer's disease 4		DOID:0110040	OMIM:606889	J:90685