Analysis Tools
mortality/aging
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• several homozygotes are dead at E14 while survivors appear distended and hemorrhagic
• most homozygotes die by E16; survivors show extensive bleeding in the head and along the vertebral column which appears enlarged
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nervous system
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• at E15.5, the mutant neural tube is dorsally thinned and lacks a roof plate
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• homozygotes exhibit defects in cranial neural crest cell development
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spina bifida
(
J:41814
)
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• in thoracic vertebrae, and to a lesser extent in cervical vertebrae, neural arches fail to form a convex structure, resulting in spina bifida
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• at E8 and E9, most mutant embryos display a very wavy neural tube
• at E10, >50% of mutant embryos have a very wavy neural tube
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embryo
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• at E9, a few mutant embryos exhibit defective yolk sac vasculature
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• at E8, five of 6 homozygotes have not turned; ~25% and 50% of mutant embryos remain unturned at E9 and E10, respectively
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• at E8, one of 6 homozygotes is severely retarded at the headfold stage
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• at E9, 25% of mutant embryos are smaller than wild-type embryos
• at E10, 25% of mutant embryos are very small while another 25% appear normal
• at E11, >50% of mutant embryos appear normal while the remainder are smaller and exhibit a wavy neural tube
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• at E15.5, the mutant neural tube is dorsally thinned and lacks a roof plate
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• homozygotes exhibit defects in cranial neural crest cell development
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spina bifida
(
J:41814
)
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• in thoracic vertebrae, and to a lesser extent in cervical vertebrae, neural arches fail to form a convex structure, resulting in spina bifida
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• at E8 and E9, most mutant embryos display a very wavy neural tube
• at E10, >50% of mutant embryos have a very wavy neural tube
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cardiovascular system
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• at E9, a few mutant embryos exhibit defective yolk sac vasculature
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• at E10, 25% of mutant embryos show pericardial edema
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hemorrhage
(
J:41814
)
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• at E8, 2 of 6 mutant embryos show 2-4 subepidermal blebs flanking the neural tube
• at E9, a few mutant embryos show blood-filled blebs along the neural tube and head
• at E14, surviving mutant embryos display bleeding at various locations
• by E16, survivors exhibit extensive bleeding in the head and along the vertebral column
• despite bleeding, septation in the heart proceeds normally in at least some of E15 survivors
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homeostasis/metabolism
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• at E12, mutant embryos show blebbing in multiple locations and edema, which increases in severity by E13
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• at E10, 25% of mutant embryos show pericardial edema
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skin edema
(
J:41814
)
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• at E15.5, mutant embryos exhibit distended, edematous skin
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growth/size/body
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• at E13-E15, the nasal bone fails to fuse in the midline
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• at E12, mutant embryos show a cleft face
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• at E8, one of 6 homozygotes is severely retarded at the headfold stage
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• at E9, 25% of mutant embryos are smaller than wild-type embryos
• at E10, 25% of mutant embryos are very small while another 25% appear normal
• at E11, >50% of mutant embryos appear normal while the remainder are smaller and exhibit a wavy neural tube
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• at E15.5, tissues such as the liver are bulging from the abdominal wall musculature
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craniofacial
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• at E15, the mutant basisphenoid and temporal bones display retarded ossification
• in contrast, the basioccipital bone and the maxilla appear normal
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• at E13-E15, the frontal bone shows incomplete fusion towards the top of the skull
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• at E13-E15, the parietal bone shows incomplete fusion towards the top of the skull
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• at E13-E15, the nasal bone fails to fuse in the midline
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• at E13-E15, the zygomatic bone is absent
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• at E12, mutant embryos show a cleft face
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skeleton
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• at E15, the mutant basisphenoid and temporal bones display retarded ossification
• in contrast, the basioccipital bone and the maxilla appear normal
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• at E13-E15, the frontal bone shows incomplete fusion towards the top of the skull
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• at E13-E15, the parietal bone shows incomplete fusion towards the top of the skull
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• at E13-E15, the nasal bone fails to fuse in the midline
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• at E13-E15, the zygomatic bone is absent
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• at E15.5, mutant embryos display a poorly developed acromion
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• at E15.5, most ribs are attached to sternal bands; however, mutant sternal bands are shorter, highly abnormal and fail to fuse
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• at E15.5, almost all homozygotes display asymmetric rib bifurcations of a variable extent; first evident at E13
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rib fusion
(
J:41814
)
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• at E15.5, almost all homozygotes display asymmetric rib fusions of a variable extent; first evident at E1
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• at E15.5, mutant thoracic vertebrae show absence of flexure
• sacral and caudal vertebrae are slightly retarded in development but otherwise normal
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• at E15.5, mutant embryos display severe arching of the spinal column
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• at E15.5, mutant cervical vertebrae show extensive structural changes and anterior-posterior fusions of the arches, involving up to 4 cervical vertebrae in some cases
• in addition, the apposition of vertebrae at the level of the vertebral bodies is abnormal and bilaterally asymmetric
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muscle
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• at E10.5, mutant embryos show disorganized myotomal development, esp. at the level of more rostral somites
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• at E10.5, mutant myotomes at the level of 15-20 most rostral somites are elongated instead of round, and missing or fused with adjacent myotomes
• in contrast, myotomal morphology appears normal in caudal somites
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cellular
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• at E10, mutant embryos show increased apoptosis in the somites, cephalic region and branchial arches i.e. on pathways followed by migrating cranial NCCs
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pigmentation
| N |
• at E10-E13, homozygotes display no pigmentation defects with normal melanocyte migration/number around the ear and tail
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integument
skin edema
(
J:41814
)
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• at E15.5, mutant embryos exhibit distended, edematous skin
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• at E15.5, mutant embryos show a very thin epidermal layer, that is separated from any dermal layer when blebbed
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fetal bleb
(
J:41814
)
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• at E12, mutant embryos show large blebs on their heads accompanied by bleeding
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respiratory system
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• at E13-E15, the nasal bone fails to fuse in the midline
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