Phenotypes associated with this allele

• Allele Symbol: Psen2^tm1Haa
• Allele Name: targeted mutation 1, Christian Haass
• Allele ID: MGI:2664242
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Psen2^tm1Haa/Psen2^tm1Haa	involves: 129S/SvEv * C57BL/6	MGI:2664243
cn2	Psen1^tm2Shn/Psen1^tm4.1Shn Psen2^tm1Haa/Psen2^tm1Haa Tg(Camk2a-cre)1Shn/0	involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA	MGI:5754385
cn3	Psen1^tm2Shn/Psen1^tm2Shn Psen2^tm1Haa/Psen2^+ Tg(Msx2-cre)5Rem/0	involves: 129S4/SvJae	MGI:3525175
cn4	Psen1^tm2Shn/Psen1^tm2Shn Psen2^tm1Haa/Psen2^tm1Haa Tg(Msx2-cre)5Rem/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3525177
cx5	Psen1^tm4.1Shn/Psen1^+ Psen2^tm1Haa/Psen2^tm1Haa	involves: 129 * C57BL/6 * C57BL/6J	MGI:5754382
cx6	Psen1^tm3.1Shn/Psen1^tm3.1Shn Psen2^tm1Haa/Psen2^tm1Haa	involves: 129 * C57BL/6 * C57BL/6J * CBA	MGI:5427484

Genotype
MGI:2664243

hm1

• Allelic Composition: Psen2^tm1Haa/Psen2^tm1Haa
• Genetic Background: involves: 129S/SvEv * C57BL/6

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

normal phenotype

no abnormal phenotype detected ( J:83860 )

• mice develop normally and exhibit normal brain architecture and skeleton

Genotype
MGI:5754385

cn2

• Allelic Composition: Psen1^tm2Shn/Psen1^tm4.1Shn; Psen2^tm1Haa/Psen2^tm1Haa; Tg(Camk2a-cre)1Shn/0
• Genetic Background: involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA

nervous system

microgliosis ( J:219929 )

• in the neocortex and hippocampus

abnormal cerebral cortex morphology ( J:219929 )

• 31.5% reduction in cortical volume at 18 months of age

abnormal neocortex morphology ( J:219929 )

• increase in apoptosis in the neocortex

astrocytosis ( J:219929 )

• in the cortex

decreased neuron number ( J:219929 )

• 22.1% reduction in neuron number in the cerebral cortex at 18 months of age

neurodegeneration ( J:219929 )

• mice exhibit age-dependent neurodegeneration throughout the cerebral cortex

hematopoietic system

microgliosis ( J:219929 )

• in the neocortex and hippocampus

immune system

microgliosis ( J:219929 )

• in the neocortex and hippocampus

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

Genotype
MGI:3525175

cn3

• Allelic Composition: Psen1^tm2Shn/Psen1^tm2Shn; Psen2^tm1Haa/Psen2⁺; Tg(Msx2-cre)5Rem/0
• Genetic Background: involves: 129S4/SvJae

integument

abnormal hair follicle morphology ( J:94517 )

• showed a transient phenotype in embryo-deleted skin but developed a normal coat by P22 with a few abnormal looking follicles

Genotype
MGI:3525177

cn4

• Allelic Composition: Psen1^tm2Shn/Psen1^tm2Shn; Psen2^tm1Haa/Psen2^tm1Haa; Tg(Msx2-cre)5Rem/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6 * CBA

mortality/aging

premature death ( J:94517 )

• died after weaning, with the longest survivor dying at P30

digestive/alimentary system

esophagus hyperplasia ( J:94517 )

• hyperplasia of the esophagus most likely leading to premature death

endocrine/exocrine glands

absent sebocyte ( J:94517 )

• did not detect mature sebocytes in embryo-deleted hair follicles

growth/size/body

esophagus hyperplasia ( J:94517 )

• hyperplasia of the esophagus most likely leading to premature death

epidermal cyst ( J:94517 )

• by P22, keratinized cysts replaced embryo-deleted hair follicles

decreased body size ( J:94517 )

• smaller than controls by P12

integument

absent sebocyte ( J:94517 )

• did not detect mature sebocytes in embryo-deleted hair follicles

epidermal cyst ( J:94517 )

• by P22, keratinized cysts replaced embryo-deleted hair follicles

abnormal hair growth ( J:94517 )

• mutants had regions with normal hair and naked skin patches that were separated by regions covered with short hairs presumably the result of different timing of Cre expression

focal hair loss ( J:94517 )

• had naked skin patches

short hair ( J:94517 )

• had regions of short hairs

abnormal hair follicle morphology ( J:94517 )

• an epithelial cluster formed an unusual flat boundary with the dermal papilla in P0 embryo-deleted mutant follicles

• at P4, the upper part of embryo-deleted follicles contained loosely packed cells with enlarged cytoplasm and small nuclei and at P8, these loosely packed cells extended farther down to the matrix

abnormal hair follicle inner root sheath morphology ( J:94517 )

• inner root sheath cells fail to accumulate by P7 but the outer root sheath was normal at P8

hair follicle degeneration ( J:94517 )

• all cell layers of embryo-deleted follicles except the outer root sheath and the Dermal Papilla appeared to have collapsed around the melanin-containing core at P8

• At P12 and P15, degenerating embryo-deleted follicles lost contact with their Dermal Papilla and the outer root sheath began to proliferate, stratify, and keratinize

epidermal hyperplasia ( J:94517 )

• exhibited epidermal hyperproliferation

thick epidermis ( J:94517 )

• embryo-deleted epidermis at P8 was acanthotic and hyperkeratotic

scaly skin ( J:94517 )

• naked skin patches became scaly

thick skin ( J:94517 )

• naked skin patches became thick

Genotype
MGI:5754382

cx5

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

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

Genotype
MGI:5427484

cx6

• Allelic Composition: Psen1^tm3.1Shn/Psen1^tm3.1Shn; Psen2^tm1Haa/Psen2^tm1Haa
• Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * CBA

behavior/neurological

abnormal spatial working memory ( J:184454 )

• mild impairment of spatial memory in a Morris water maze