mortality/aging
• embryos die by E11
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growth/size/body
• mutant embryos are visibly larger than controls
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craniofacial
• the mandibular prominence is massively overgrown
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• the maxillary prominence is massively overgrown and is is about twice the size of controls
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• the nasal placode is displaced and protrudes laterally
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• agenesis of the fourth pharyngeal arch; a large cleft remained at the site where the third and fourth arches are normally located
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• the second pharyngeal arch is severely hypoplastic
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• genesis of the third pharyngeal arch; a large cleft remained at the site where the third and fourth arches are normally located
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hearing/vestibular/ear
• at E10.5, the otocysts are smaller than controls
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nervous system
• at E10.5, mutants display hypoplasia of the peripheral nervous system including defects in cranial ganglia branching
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• at E10.5, mutants display excessive neuronal differentiation in the hindbrain
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• at E10.5, mutant embryos exhibit an excess of laminae or folia within the neural plate, particularly at the level of the forebrain, midbrain and anterior hindbrain
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• at E10.5, the cranial neural folds are persistently open and have an everted and enlarged appearance
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• rostral crainorachischesis
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exencephaly
(
J:171522
)
• caudal to the otocyst, the cranial ganglia are hypoplastic or absent
• rudimentary condensations corresponding to the glossopharyngeal ganglion and the vagal ganglion may exist
|
• the facioacoustic/vestibulocochlear ganglion is abnormally shaped and persists as a round hypoplastic ganglia
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• at E10.5, mutants display small facial ganglia and these are disconnected from the neural tube
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• at E10.5, mutants display small glossopharyngeal ganglia and these are disconnected from the neural tube
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• at E9.5, trigeminal ganglion is missing the dorsal half, or proximal root, suggesting pertubations of neural crest cell migration in mutant embryos
• at E10.5, mutants display small trigeminal ganglia and these are disconnected from the neural tube
|
cardiovascular system
• E9.5-10.5 wiggable embryos exhibit enhanced PECAM-1 staining compared to wild-type controls, indicative of a marked increase in endothelial cells and vasculature formation
|
taste/olfaction
• the nasal placode is displaced and protrudes laterally
|
embryo
• agenesis of the fourth pharyngeal arch; a large cleft remained at the site where the third and fourth arches are normally located
|
• the second pharyngeal arch is severely hypoplastic
|
• genesis of the third pharyngeal arch; a large cleft remained at the site where the third and fourth arches are normally located
|
• mutant embryos are visibly larger than controls
|
• at E10.5, mutant embryos exhibit an excess of laminae or folia within the neural plate, particularly at the level of the forebrain, midbrain and anterior hindbrain
|
• at E10.5, the cranial neural folds are persistently open and have an everted and enlarged appearance
|
• rostral crainorachischesis
|
vision/eye
• at E10.5, complete ocular agenesis is apparent, with absence of the optic vesicles; this phenotype may be secondary to the overgrowth of the maxillary prominence
|
respiratory system
• the nasal placode is displaced and protrudes laterally
|
cellular
• at E10.5, mutants display excessive neuronal differentiation in the hindbrain
|