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Phenotypes Associated with This Genotype
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Psen1tm1Shn mutation (2 available); any Psen1 mutation (38 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• none survive for longer than 30 min after natural birth or C-section

• the segmentation in the caudal region of the somites appears less distinct at E9.5-10.5
• shorter rostro-caudal body axes

cardiovascular system
• intracranial hemorrhage with varying degrees of severity and time of onset that can appear as early as E12.5

• occipital bones are underdeveloped

• neonates weigh 15-20% less than control littermates

• hindlimbs are curved toward the midline
• tails are curled toward the right side of the body
• by E12.5, all mutants display a kinked tail

nervous system
• intracranial hemorrhage with varying degrees of severity and time of onset that can appear as early as E12.5
• the brain shows symmetric cavitation in the ventrolateral region of the ventricular zone in the posterior portion of the brain at E17.5
• smaller at E9.5
• the ependymal layer and the ventricular zone at the diencephalic sulcus are disrupted
• the ventricular zone along the mid-portions of the third ventricle is absent in E14.5 mutants
• at the level of the interventricular foramen of Monroe, where the lateral ventricles join the third ventricle, a disruption of the cerebral architecture is seen at E16.5
• atrophy in the subcortical region of the temporal lobe along the external capsule in the brain
• hippocampal formation is hardly recognizable at E14.5, whereas in controls it is quite prominent
• dentate gyrus is less distinct than in controls at E17.5
• the lateral ganglionic eminence is much less prominent starting at E12.5 than in controls
• fewer dividing progenitor cells in the luminal layer of the ventricular zone in the lateral ganglionic eminence, resulting in a thinner ventricular zone
• the ventricular and subventricular zones in the ventrolateral region show severe loss of neural progenitor cells leading to symmetric cavitation at E17.5
• region-specific (the ventricular and subventricular zones in the ventrolateral region of the brain and subcortical region of the temporal lobe) symmetric loss of neurons and neural progenitor cells with varying severity at E17.5-18.5 and in neonates
• exhibit a progression of neuronal loss from anterior to posterior portions of the cerebral hemispheres

respiratory system
• the alveoli are poorly expanded, probably due to mechanical difficulties imposed by the malformed ribcage

• axial skeleton is severely malformed
• caudal to the pelvis, the axial skeletal structure is completely missing
• occipital bones are underdeveloped
• sternum is shorter, thicker and lacks intersternebral cartilage
• the ribs are detached from the vertebral column and are only present in the thoracic region in association with the underossified bones in the vertebral column
• the posterior rib segments are missing and the existing ribs are underossified and fused
• homozygotes have only 9-11 instead of 13 pairs of ribs
• existing ribs are fused
• lack the normal cervical and lumbar flexures of the vertebral column
• axial skeleton has about 12 pairs of underossified bones and 3-4 pairs or random ossification centers followed by an unossified and unsegmented cartilaginous mass on the dorsal aspect of the vertebral column



Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Alzheimer's disease DOID:10652 J:40365
Alzheimer's disease 3 DOID:0110042 OMIM:607822

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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last database update
MGI 6.15
The Jackson Laboratory