All Phenotypes Psen1<tm2Shn> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	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
cn2	Psen1^tm2Shn/Psen1^tm2Shn Psen2^tm1Haa/Psen2⁺ Tg(Msx2-cre)5Rem/0	involves: 129S4/SvJae	MGI:3525175
cn3	Psen1^tm2Shn/Psen1^tm2Shn Psen2^tm1Haa/Psen2^tm1Haa Tg(Msx2-cre)5Rem/0	involves: 129S4/SvJae * C57BL/6 * CBA	MGI:3525177
cn4	Psen1^tm2Shn/Psen1^tm2.1Shn Tg(Camk2a-cre)1Shn/0	involves: 129S4/SvJae * C57BL/6J * CBA	MGI:3777985
cn5	Psen1^tm2Shn/Psen1^tm2Shn Tg(Camk2a-cre)1Shn/0	involves: 129S4/SvJae * C57BL/6J * CBA	MGI:3777984

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1^tm2Shn mutation (1 available); any Psen1 mutation (46 available)
Psen1^tm4.1Shn mutation (0 available); any Psen1 mutation (46 available)
Psen2^tm1Haa mutation (0 available); any Psen2 mutation (31 available)
Tg(Camk2a-cre)1Shn mutation (0 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1^tm2Shn mutation (1 available); any Psen1 mutation (46 available)
Psen2^tm1Haa mutation (0 available); any Psen2 mutation (31 available)
Tg(Msx2-cre)5Rem mutation (2 available)

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

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

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

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

Allelic Composition	Psen1^tm2Shn/Psen1^tm2.1Shn Tg(Camk2a-cre)1Shn/0
Genetic Background	involves: 129S4/SvJae * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1^tm2.1Shn mutation (0 available); any Psen1 mutation (46 available)
Psen1^tm2Shn mutation (1 available); any Psen1 mutation (46 available)
Tg(Camk2a-cre)1Shn mutation (0 available)

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

behavior/neurological

abnormal spatial learning ( J:71606 )

• mice show mild defect in spatial learning

abnormal long-term spatial reference memory ( J:71606 )

• mice have mild but significant impairment in spatial learning and memory

• in the Morris water maze paradigm, mutants and wild-type mice show improvements in performance for the initial 7 days of training, but for the last 3-5 days, mutant performance plateaus while control mice continue to improve in finding the hidden platform

• in probe trials, mutants diplay fewer crossings of the target quadrant after 10 days of training compared to wild-type mice

• similar results are obtained when platform position is changed and test is repeated

nervous system

nervous system phenotype ( J:71606 )

N	• examination of brains at P18, 20, 22, and 3 months shows no gross abnormalities • no increase in apoptosis is observed at any ages examined • normal synaptic transmission and plasticity in the Schaeffer collateral pathway are observed

amyloid beta deposits ( J:71606 )

• Abeta40 levels are reduced in cortex relative to control brains, while Abeta42 levels are elevated

homeostasis/metabolism

amyloid beta deposits ( J:71606 )

• Abeta40 levels are reduced in cortex relative to control brains, while Abeta42 levels are elevated

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1^tm2Shn mutation (1 available); any Psen1 mutation (46 available)
Tg(Camk2a-cre)1Shn mutation (0 available)

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

behavior/neurological

abnormal spatial learning ( J:71606 )

• mice show mild defect in spatial learning

abnormal long-term spatial reference memory ( J:71606 )

• mice have mild but significant impairment in spatial learning and memory

• in probe trials, mutants diplay fewer crossings of the target quadrant after 10 days of training compared to wild-type mice

• similar results are obtained when platform position is changed and test is repeated

nervous system

nervous system phenotype ( J:71606 )

N	• examination of brains at P18, 20, 22, and 3 months shows no gross abnormalities • no increase in apoptosis is observed at any ages examined • normal synaptic transmission and plasticity in the Schaeffer collateral pathway are observed

amyloid beta deposits ( J:71606 )

• Abeta40 levels are reduced in cortex relative to control brains, while Abeta42 levels are elevated

homeostasis/metabolism

amyloid beta deposits ( J:71606 )

• Abeta40 levels are reduced in cortex relative to control brains, while Abeta42 levels are elevated

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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