Analysis Tools
mortality/aging
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• homozygotes die by E15.5 due to severe anemia
• some mutant pups are stillborn; these are pale and hydropic
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growth/size/body
flat forehead
(
J:64676
)
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• at E13.5, homozygotes display a flattened forehead due to cerebral cortex anomalies
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homeostasis/metabolism
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• mutant embryos are hydropic
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integument
vision/eye
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• eye development arrests after formation of the optic vesicle but prior to the formation of the optic cup
• at E9.5, the ectoderm fails to thicken and form a lens placode
• however, in some mutant embryos, eyelid folds and extraocular muscles persist after E13.5
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• no lens placode is observed at E9.5
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• formation of the optic vesicle is arrested at E9.5
• only a small remnant of the optic vesicle is noted by E10.5
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absent retina
(
J:64676
)
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• no retina is observed by E13.5
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anophthalmia
(
J:64676
)
|
• at E13.5, homozygotes are anophthalmic; the eye proper (globus) is absent
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nervous system
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• at >E12.5, homozygotes display a significant size reduction of the forebrain
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• at E12.5, homozygotes display hypoplasia of the basal ganglia
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• at E12.5, homozygotes display hypoplasia of the cortical plate
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• at E12.5, homozygotes display agenesis of the hippocampus anlagen (aplasia of the archicortex)
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• at E12.5, homozygotes display hypoplasia of the cerebral cortex due to a defect in precursor cell proliferation, as revealed by BrdU staining
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• at E12.5, homozygotes display hypoplasia of the neocortex due to a proliferative defect
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• homozygotes lack a well developed olfactory bulb due to gross brain malformation
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hematopoietic system
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• homozygotes exhibit inefficient definitive erythropoeisis due to a defective extracellular fetal liver microenvironment
• at E13.5, homozygotes show a 7-fold reduction in the absolute number of nucleated cells present in liver relative to control mice
• by E15.5, most of the erythrocytes in mutant embryos are of the mature type; however, their number is significantly decreased, as reflected by the reduction of hematocrit levels
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• at E13.5, the total numbers, per mutant liver, of BFU- and CFU-erythroid progenitors are decreased 16-fold and 40-fold, respectively
• in contrast, the number of CFU-granulocyte/macrophage progenitors is reduced by 8%, in proportion to the reduction noted in total liver cellularity
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• a significant reduction of hematocrit levels is observed between E13.5 and E15.5
• by E15, hematocrit levels are reduced to 10% of control levels
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liver/biliary system
small liver
(
J:64676
)
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• at E13.5, the liver is smaller than normal
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• at E13.5, homozygotes show a 7-fold reduction in total liver cellularity relative to wild-type embryos
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craniofacial
flat forehead
(
J:64676
)
|
• at E13.5, homozygotes display a flattened forehead due to cerebral cortex anomalies
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