Analysis Tools
mortality/aging
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• homozygous null mice die perinatally
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cellular
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• failure of cranial closure at 9 dpc coincides with increased apoptosis in the midbrain, anterior hindbrain and proximal mesenchyme of the first branchial arch
• at 9.5 dpc, cell death is still elevated in the trigeminal ganglia primordia and proximal first-branchial-arch mesenchyme, but not in brain neuroepithelia
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craniofacial
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• homozygotes display severe dysmorphogenesis of the skull and a fully penetrant cranio-abdominoschisis
• at 16.5 dpc, all major skull bones of non-somitic origin are morphologically abnormal or severely reduced
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cranioschisis
(
J:33032
)
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• the two brain hemispheres develop open with the germinal layer facing outward (cranioschisis)
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• at 9.5-11.5 dpc, medial nasal and mandibular prominences fail to undergo normal midline fusions, resulting in full midline facial clefting
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• homozygous null mice lack external ears
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hearing/vestibular/ear
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• homozygous null mice lack external ears
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limbs/digits/tail
absent radius
(
J:33032
)
|
• homozygotes display various limb defects, such as lack of a radius bone; however, these defects are not fully penetrant
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skeleton
absent radius
(
J:33032
)
|
• homozygotes display various limb defects, such as lack of a radius bone; however, these defects are not fully penetrant
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• at 16.5 dpc, the axial skeleton is contorted and smaller relative to wild-type
|
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• homozygotes display severe dysmorphogenesis of the skull and a fully penetrant cranio-abdominoschisis
• at 16.5 dpc, all major skull bones of non-somitic origin are morphologically abnormal or severely reduced
|
cranioschisis
(
J:33032
)
|
• the two brain hemispheres develop open with the germinal layer facing outward (cranioschisis)
|
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• open rib cage
|
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• at 16.5 dpc, homozygotes display no sternum medially
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splayed ribs
(
J:33032
)
|
• the ribs of homozygous null mutants splay outwards but are normal in number
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vision/eye
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• the optic cup is displaced with dysmorphic neural and pigmented retinal layers of the eye developing medially
• the contact between the optic cup and head ectoderm is lost, and lens induction is aborted
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anophthalmia
(
J:33032
)
|
• homozygous null mice lack eyes
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nervous system
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• the cranial portion of the neural tube fails to close
• at 9-9.5 dpc, the cranial folds fail to join dorsomedially for closure, and the entire brain plate remains open thereafter
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• expansion of the everted forebrain between 9.5-11.5 dpc leads to progressive lateral displacement of the facial primordia
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exencephaly
(
J:33032
)
|
• at 9-9.5 dpc, the cranial folds fail to join dorsomedially for closure, and the entire brain plate remains open thereafter
|
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• at 10.5 dpc, the cranial ganglia are severely underdeveloped (trigeminal, geniculate, vestibulocochlear and nodose) or absent (petrosal)
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• the cranial ganglia, especially the trigeminal ganglia, display severe hypoplasia; dorsal root ganglia are less affected
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growth/size/body
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• at 9.5-11.5 dpc, medial nasal and mandibular prominences fail to undergo normal midline fusions, resulting in full midline facial clefting
|
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• homozygous null mice lack external ears
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• the ventral body wall fails to close medially, allowing extrusion of thoracic and abdominal organs through the open rib cage
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embryo
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• by 8.5-9 dpc, mutant embryos show a delayed elevation of the cranial neural folds and a more widely open brain plate
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• the cranial portion of the neural tube fails to close
• at 9-9.5 dpc, the cranial folds fail to join dorsomedially for closure, and the entire brain plate remains open thereafter
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