mortality/aging
• die within 24 hours after birth
|
cardiovascular system
• areas affected with rosette-like structures are rich in dilated blood vessels
|
• moderate hemorrhage in the ventricles of the brain, detected as early as E12.5
|
craniofacial
domed cranium
(
J:89028
)
• dome-like shape of head
|
embryo
• the apical-junctional complex in the neuroepithelium of E10.5 mutants is disrupted; pseudostratified neuroepithelium in the wild-type embryos is replaced by stratified neuroepithelium in the mutant
|
• formation of neuroepithelial rosette-like structures similar to the neuroblastic rosettes in human primitive neuroectodermal tumors
|
nervous system
• areas affected with rosette-like structures are rich in dilated blood vessels
|
• moderate hemorrhage in the ventricles of the brain, detected as early as E12.5
|
• many neural progenitor cells fail to exit the cell cycle and differentiate, and instead, continue to proliferate and die by apoptosis
• neural progenitor cells exhibit a loss of cell polarity
|
• many neural progenitor cells fail to differentiate, and instead continue to proliferate
|
• the apical-junctional complex in the neuroepithelium of E10.5 mutants is disrupted; pseudostratified neuroepithelium in the wild-type embryos is replaced by stratified neuroepithelium in the mutant
|
• formation of neuroepithelial rosette-like structures similar to the neuroblastic rosettes in human primitive neuroectodermal tumors
|
hydrocephaly
(
J:89028
)
• newborns develop severe hydrocephalus
|
• ventricles become dilated by E15.5
|
• lateral ventricles of newborns appear dilated due to accumulation of cerebrospinal fluid and increasing pressure
|
• expansion of the striatum region of the brain at E12.5, where the neuroepithelial cell layer extends into the zones normally occupied by differentiating cells and forms aberrant rosette-like structures
|
• ventricular surface of cerebral cortex is destroyed and the subventricular structures are severely damaged
|
• overall increase in the neural progenitor cell domain and decrease in the differentiated neuronal cell domain
|
• overall reduction of in the numbers of differentiated neurons in the striatum region
|
skeleton
domed cranium
(
J:89028
)
• dome-like shape of head
|
cellular
• many neural progenitor cells fail to exit the cell cycle and differentiate, and instead, continue to proliferate and die by apoptosis
• neural progenitor cells exhibit a loss of cell polarity
|
• many neural progenitor cells fail to differentiate, and instead continue to proliferate
|