Mouse Genome Informatics
hm
    Psen1tm1Bdes/Psen1tm1Bdes
involves: 129P2/OlaHsd
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging

growth/size/body
• about one third of mutants develop midline defects of the body wall
• about one third of mutants exhibit umbilical hernias containing loops of small intestine, covered only by atrophic epithelium
• severe growth retardation, particularly in the caudal region

limbs/digits/tail

cardiovascular system
• within the cerebral anlage, there is a reduction of the numbers of small-caliber vessels in the basal hemisphere as early as E14 and capillaries are only rarely encountered

craniofacial
• the posterior segment of the sagittal suture immediately anterior to the occipital bone has narrow clefts, through which brain and leptomeningeal tissue protrudes into the subcutaneous space
• about one third of mutants develop midline defects of the cranial vault

nervous system
• within the cerebral anlage, there is a reduction of the numbers of small-caliber vessels in the basal hemisphere as early as E14 and capillaries are only rarely encountered
• multifocal overmigration of cortical plate neurons beyond their normal positions into the subarachnoid space
• overall density of cells in the marginal zone is reduced during the period of cortical development between E13 and E18, after being initially normal at E13, most notably of the Cajal-Retzius cells
• the extracellular matrix of the marginal zone is altered, with chondroitin sulfate proteoglycan and reeling content reduced after E12
• cortical dysplasia develops between E13 and E18, with mutants showing lissencephalic lesions and completely dissolved cortical plate
• the cortical anlage of E15 mutants exhibits numerous islands of ectopic neurons along the brain surface, as a result of overmigration of cortical-plate neurons into the marginal zone and subarachnoid space
• fibrotic thickening of leptomeninges, with up to five layers of fiberblasts
• the meninges and their underlying basement membrane either form bulges ensheathing the overmigrated neural tissue or show gaps

skeleton
• the posterior segment of the sagittal suture immediately anterior to the occipital bone has narrow clefts, through which brain and leptomeningeal tissue protrudes into the subcutaneous space
• about one third of mutants develop midline defects of the cranial vault

cellular
• multifocal overmigration of cortical plate neurons beyond their normal positions into the subarachnoid space

Mouse Models of Human Disease
OMIM IDRef(s)
Alzheimer Disease; AD 104300 J:71037