mortality/aging
• no intact homozygous embryos are found after E11.0
|
cardiovascular system
• multiple large blood vessels are seen in homozygous embryos probably as a result of partial anterior-posterior axis duplication
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• enlarged hearts are frequently seen in mildly affected embryos
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• enlarged cardiac sacs are seen in homozygous embryos probably as a result of partial anterior-posterior axis duplication
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absent heart
(
J:90402
)
• in severely affected embryos the heart fails to develop
|
digestive/alimentary system
• foregut defects are seen probably as a result of partial anterior-posterior axis duplication
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embryo
• in severely affected embryos the anterior portion of the embryo is frequently bent laterally
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• anterior neural structures are missing from E9.5 homozygous embryos
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• anterior-posterior axis structures including the neural groove and primitive streak are partially or fully duplicated in homozygous embryos
• in some cases axis duplications are seen on opposite sides of the embryo
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• intact embryos recovered at E9.5 are 20 - 40% the size of wild-type littermates
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• the region where axial mesoderm develops appears expanded at the expense of other mesodermal cell types
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• at E8.5 in mildly affected embryos duplication of the developing neural-folds is seen more commonly in the anterior portion of the embryo
• multiple neural grooves and abundant neuroectodermal cells are seen in sections through these neural-folds in mildly affected embryos
• in severely affected embryos the neural folds are small or absent however multiple neural grooves are seen on the ventral surface of these embryos extending anteriorly
|
• at E8.0 the organization of the node and notochord is severely abnormal with multiple nodes and expanded and/or duplicated notochord-like structures found on the ventral surface of the embryo
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• at E7.5 frequent bulging and occasional duplication of the primitive streak with abnormal accumulation of mesoderm is seen in homozygous embryos
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• in severely affected embryos somites are absent
|
• at E8.5 - 9.5 an extra row of somites is sometimes seen in mildly affected embryos
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growth/size/body
• enlarged hearts are frequently seen in mildly affected embryos
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• intact embryos recovered at E9.5 are 20 - 40% the size of wild-type littermates
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nervous system
• midbrain- and hindbrain-specific markers are expressed beyond their normal domains suggesting abnormalities in caudal brain development
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• expression of forebrain-specific markers indicates a severe reduction of the forebrain
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