mortality/aging
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• mutants survive until birth
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craniofacial
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• all bones are present, but with minor defects
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• bones are connected by calcified tissues to form a trabecular basal plate, in contrast to being separated by cartilage as in wild-type embryos
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• frontonasal prominence is narrowed, producing a protuberance with a beak-like appearance instead of a normal muzzle
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• hypoplasia of the lateral nasal prominence
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• the mandibular prominences fuse at the midline, but are severely underdeveloped at E11.5 and 12.5
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• hypoplasia of the medial nasal prominence
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• underdeveloped in mutants, consistent with hypoplasia of the medial and lateral nasal prominences
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• by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of E9.5 embryos
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• ossifying center of the hyoid bone is missing at E18.5
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• part of the palatal processes of the maxilla are present in E18.5 embryos
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• only a fragment of the zygomatic process of the maxilla is found at E18.5
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• all embryos display hypoplasia of the facial prominences
• at E9.0 facial prominences are comparable to wild-type; shortly after, facial prominences fail to grow and by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of embryos at E9.5
• the groove overlying the lamina terminalis of forebrain which normally disappears around E10.5 is still present at E11.5
• increased cell death is observed at E10.5 in the developing facial region compared to controls
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skeleton
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• all bones are present, but with minor defects
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• bones are connected by calcified tissues to form a trabecular basal plate, in contrast to being separated by cartilage as in wild-type embryos
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• ossifying center of the hyoid bone is missing at E18.5
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• part of the palatal processes of the maxilla are present in E18.5 embryos
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• only a fragment of the zygomatic process of the maxilla is found at E18.5
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hearing/vestibular/ear
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• most of the ectotympanic bone is missing in mutants at E18.5
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vision/eye
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• some defects in lens formation are suggested
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• at E10.5 the optic eminence is reduced, as well as the corneal endoderm
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• the eyelids fail to form during development
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digestive/alimentary system
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• part of the palatal processes of the maxilla are present in E18.5 embryos
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respiratory system
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• underdeveloped in mutants, consistent with hypoplasia of the medial and lateral nasal prominences
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taste/olfaction
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• underdeveloped in mutants, consistent with hypoplasia of the medial and lateral nasal prominences
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growth/size/body
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• by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of E9.5 embryos
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• ossifying center of the hyoid bone is missing at E18.5
|
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• part of the palatal processes of the maxilla are present in E18.5 embryos
|
|
• only a fragment of the zygomatic process of the maxilla is found at E18.5
|
|
• all embryos display hypoplasia of the facial prominences
• at E9.0 facial prominences are comparable to wild-type; shortly after, facial prominences fail to grow and by E10.5 embyros exhibit a hypoplastic facial morphology, more characteristic of embryos at E9.5
• the groove overlying the lamina terminalis of forebrain which normally disappears around E10.5 is still present at E11.5
• increased cell death is observed at E10.5 in the developing facial region compared to controls
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