Analysis Tools
mortality/aging
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• homozygous embryos decrease in number between E15 and birth with <10% surviving birth and immediate postnatal period
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• few mutants survive to weaning, likely due to feeding impairment due to craniofacial abnormalities as well as neurological problems
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embryo
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• areas of colliquative necrosis are seen at birth containing foamy and debris-laden macrophages
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• by E10, embryos show growth retardation
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• by E10, some embryos show neural tube defects, including craniofacial defects, myelomeningoceles and encephaloceles; some of these defects are observed in live-born mutants
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• by E10, some embryos display myelomeningoceles
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growth/size/body
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• majority of mutants have abnormal dentition
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• by E10, embryos show growth retardation
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• all late embryonic and live-born pups are severely runted
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nervous system
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• within necrotic brain areas, petechial hemorrhage containing macrophages and ingested erythrocytes is observed
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• by E10, some embryos show neural tube defects, including craniofacial defects, myelomeningoceles and encephaloceles; some of these defects are observed in live-born mutants
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• by E10, some embryos display myelomeningoceles
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• brains are smaller than wild-type or heterozygous littermates
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• adjacent to necrotic areas of cerebral cortex, lateral ventricles are enlarged
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• cerebral cortex and subcortical white matter display necrosis; white matter demonstrates rarefaction and microcystic changes
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exencephaly
(
J:118880
)
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• seen in some embryos by E10
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• by E10, some embryos display encephaloceles
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behavior/neurological
craniofacial
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• embryos and pups have absent calcification of the cranium
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• majority of mutants have abnormal dentition
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• majority of late embryonic and live born mutants show doming of cranium
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skeleton
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• embryos and pups have absent calcification of the cranium
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• majority of mutants have abnormal dentition
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• majority of late embryonic and live born mutants show doming of cranium
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• by E10, some embryos display myelomeningoceles
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• deficient calcification of the diaphseal portion of the long bones is observed in embryos an neonates
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cardiovascular system
hemorrhage
(
J:118880
)
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• most embryos display large areas of hemorrhage in craniofacial, cervical and dorsal aspects of trunk
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• within necrotic brain areas, petechial hemorrhage containing macrophages and ingested erythrocytes is observed
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hematopoietic system
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• mutant T lymphocytes from thymus and peripheral lymph nodes of recipients of mutant liver cells show defective response to receptor-dependent and -independent stimulation
• addition of exogenous Il-2 restores proliferative capacity
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• T lymphocytes developing from mutant liver cells in recipient mice show reduced numbers of secretory vesicles compared to wild-type lymphocytes
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• transplanted liver hematopoietic progenitor cells show defects
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• thrombin induced platelet aggregation is diminished compared to wild-type
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immune system
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• mutant T lymphocytes from thymus and peripheral lymph nodes of recipients of mutant liver cells show defective response to receptor-dependent and -independent stimulation
• addition of exogenous Il-2 restores proliferative capacity
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• T lymphocytes developing from mutant liver cells in recipient mice show reduced numbers of secretory vesicles compared to wild-type lymphocytes
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homeostasis/metabolism
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• transplanted liver hematopoietic progenitor cells show defects
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• thrombin induced platelet aggregation is diminished compared to wild-type
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cellular
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• areas of colliquative necrosis are seen at birth containing foamy and debris-laden macrophages
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• mutant T lymphocytes from thymus and peripheral lymph nodes of recipients of mutant liver cells show defective response to receptor-dependent and -independent stimulation
• addition of exogenous Il-2 restores proliferative capacity
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