Phenotypes associated with this allele
Allelic
Composition |
Psen2tm1Ber/Psen2tm1Ber
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Genetic
Background |
either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6J) or (involves: 129S1/Sv * 129X1/SvJ * CD-1) |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen2tm1Ber mutation
(0 available);
any
Psen2 mutation
(24 available)
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normal phenotype
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• interestingly, adult homozygotes are viable and display no discernible defects
• no abnormalities in somite segmentation or cardiac looping are observed at E8.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Jzt mutation
(0 available);
any
Psen1 mutation
(42 available)
Psen2tm1Ber mutation
(0 available);
any
Psen2 mutation
(24 available)
Tg(Camk2a-cre)T29-1Stl mutation
(2 available)
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behavior/neurological
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• by 10 months of age mutants have impaired performance in a novel object recognition test
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• by 10 months of age some mutants show increased activity in an open field test
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cellular
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• a dramatic increase in apoptosis is seen in the degenerating forebrain
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growth/size/body
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• by 10 months of age mutant mice start to show reduced body weights compared to wild-type
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nervous system
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• the lateral ventricles are immensely enlarged compared to wild-type or single knockout mice
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• the third ventricle is immensely enlarged compared to wild-type or single knockout mice
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• the thickness of the corpus callosum is about a third that of controls
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• the thickness of the molecular layers between the CA1 pyramidal cells and dentate gyrus is significantly reduced
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• the cortex is about half the normal thickness and the 6 layers can no longer be distinguished
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• increased Gfap expression indicates that reactive astrogliosis occurs along with forebrain degeneration
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• changes in the expression of several markers indicate that neuronal atrophy occurs along with forebrain degeneration
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• degeneration is seen in the forebrain
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Allelic
Composition |
Psen1tm1Pcw/Psen1+
Psen2tm1Ber/Psen2+
|
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Genetic
Background |
involves: 129S1/Sv * 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J |
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation
(0 available);
any
Psen1 mutation
(42 available)
Psen2tm1Ber mutation
(0 available);
any
Psen2 mutation
(24 available)
|
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normal phenotype
|
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• double heterozygotes are viable and phenotypically normal
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation
(0 available);
any
Psen1 mutation
(42 available)
Psen2tm1Ber mutation
(0 available);
any
Psen2 mutation
(24 available)
|
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|
normal phenotype
|
|
• mutant mice are viable and phenotypically normal
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation
(0 available);
any
Psen1 mutation
(42 available)
Psen2tm1Ber mutation
(0 available);
any
Psen2 mutation
(24 available)
|
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mortality/aging
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• double homozygotes die at E9-E9.5 probably due to cardiovascular failure
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embryo
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• at E8.5, double homozygotes display underdeveloped second branchial arches
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• at E8.5, double homozygotes exhibit disorganization of the trunk paraxial mesoderm
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• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells
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• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore
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• at E8.5-E9, double homozygotes exhibit a kinked neural tube
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• at E8.5-E9, double homozygotes display abnormal somite segmentation
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• at E9-E9.5, double homozygotes exhibit chorioallantoic fusion defects
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nervous system
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• at E8.5, double homozygotes show a severe disorganization of the trunk ventral neural tube
• in some cases, the notochord is completely surrounded by disordered ventral neural tube cells
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• at E8.5 and E9, double homozygotes display a delay in the closure of the anterior neuropore
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• at E8.5-E9, double homozygotes exhibit a kinked neural tube
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• at E8.5 and E9, double homozygotes display loss of mesenchyme cells in the presumptive midbrain
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• at E8.5, double homozygotes show an apparent expanded forebrain
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cardiovascular system
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• at E8.5 and E9, double homozygotes exhibit unlooped hearts
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craniofacial
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• at E8.5, double homozygotes display underdeveloped second branchial arches
|
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|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Pcw mutation
(0 available);
any
Psen1 mutation
(42 available)
Psen2tm1Ber mutation
(0 available);
any
Psen2 mutation
(24 available)
|
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mortality/aging
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• mutant embryos die between E9.5 and E13.5
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embryo
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• at E9, mutant embryos display underdeveloped second branchial arches
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• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube
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• at E9, mutant embryos display a delay in the closure of the anterior neuropore
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• at E8.5-E9, mutant embryos display a variable phenotype, ranging from no somite segmentation to the formation of highly disorganized somites
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nervous system
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• at E8.5, mutant embryos show a severe disorganization of the trunk ventral neural tube
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• at E9, mutant embryos display a delay in the closure of the anterior neuropore
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cardiovascular system
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• some mutant embryos exhibit heart looping delays at E8.5 and E9, whereas others show partial heart looping at E9
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craniofacial
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• at E9, mutant embryos display underdeveloped second branchial arches
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Analysis Tools
