All Phenotypes Psen1<tm1Hko> MGI Mouse

neonatal lethality, complete penetrance ( J:67969 )

• pups die shortly after birth

abnormal rostral-caudal patterning of the somites ( J:67969 )

• the expression of a marker for the caudal half of the somite is completely missing, indicating a defect in caudal half somite development

caudal body truncation ( J:67969 )

• homozygotes exhibit considerable truncation of the axis due to severe skeletal malformations

abnormal rib morphology ( J:67969 )

• missing proximal parts of the ribs

abnormal vertebral column morphology ( J:67969 )

• multiple defects in the vertebral column

abnormal vertebral lamina morphology ( J:67969 )

• the laminae are irregularly shaped

absent vertebral pedicles ( J:67969 )

abnormal vertebral body morphology ( J:67969 )

• the vertebral bodies are irregularly shaped

abnormal sclerotome morphology ( J:67969 )

• segmentation of the sclerotome is totally impaired at E9.5

abnormal blood vessel morphology ( J:84418 )

• vasculature in the intersomitic region is abnormal at E11.5

• hemorrhages are not found in the skin or stomach, but the blood vessels in these regions fail to develop to tightened shapes and show vasodilation

abnormal vascular endothelial cell morphology ( J:84418 )

• endothelial cells exhibit abnormal morphologies in brain capillaries, increased proliferation, and an increase in the number of apoptotic or necrotic cells

abnormal capillary morphology ( J:84418 )

• capillary architecture is aberrant in the ventral region, especially in the amygdaloid area, of the E15.5 brain; density is reduced and width is increased

decreased capillary density ( J:84418 )

abnormal brain vasculature morphology ( J:84418 )

• exhibit reduced capillary sprouting and increased capillary diameter in the brain

abnormal skin vasculature morphology ( J:84418 )

• hemorrhages are not found in the skin, but the blood vessels in this region fail to develop to tightened shapes and show vasodilation

abnormal vascular development ( J:84418 )

• vascular remodeling in the stomach and the dorsal region of the trunk skin are defective

• failure of vascular development is seen in the perineural plexus around the spinal cord

abnormal angiogenesis ( J:84418 )

• aberrant angiogenesis of the dorsal skin is prominent in the median area

• para-aortic splanchnopleural mesoderm explants grown in culture exhibit aberrant angiogenesis compared to wild-type explants, showing disorganized and string-like endothelial cells instead of formation of cord-like structures

• capillary sprouting is disturbed in the brain, with reduced numbers of capillary sprouting sites, increased capillary diameter, and aberrant branchings

vascular stenosis ( J:84418 )

• stenosis of the capillary lumens in the brain

intracerebral hemorrhage ( J:84418 )

• hemorrhages are seen in the ventral regions but not in the dorsal regions of the brain and are prominent at the amygdaloid areas in a bilateral fashion

• small, localized hemorrhages are detected within the ganglionic eminence and in the lateral ventricle, but not at any other sites, at E13.5

• By E15.5, hemorrhages are augmented in the ventricle, striatum, and amygdala, and occasionally in the thalamus

increased vasodilation ( J:84418 )

• vasodilation is evident in the ganglionic eminence at E13.5 and vessel diameter in the cortical, striatal, and amygdaloid regions is increased at E15.5

skin edema ( J:84418 )

• subcutaneous edema in the dorsal trunk after mid gestation

short tail ( J:84418 )