Analysis Tools
craniofacial
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• duplication of the ala temporalis cartilage is observed
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• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone
• duplications of the palatine, pterygoid, and lamina obturans bones are present
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• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone
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• incisor polarity is reversed in most embryos, with teeth projecting downward
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• at E18.5, lower jaw contains mystacial vibrissae, normally only present on snout
• lower incisors are present but primarily set in mesenchyme rather than bone;in severely affected embryos, incisors are present in the flaps of soft tissue that extend down from the maxilla
• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
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• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla
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• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone
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absent incus
(
J:149166
)
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• 25% of inci examined are undetectable but small nodules of undefined cartilage are present
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• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type
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• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present
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• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone
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• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls
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• tongue hypoplasia is present
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facial cleft
(
J:149166
)
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• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
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skeleton
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• at E18.5, mandible attaches to zygomatic bone by a duplicated zygomatic bone
• duplications of the palatine, pterygoid, and lamina obturans bones are present
|
|
• most of Meckel's cartilage is missing but symphysis is present surrounded by a small amount of membranous bone
|
|
• incisor polarity is reversed in most embryos, with teeth projecting downward
|
|
• at E18.5, lower jaw contains mystacial vibrissae, normally only present on snout
• lower incisors are present but primarily set in mesenchyme rather than bone;in severely affected embryos, incisors are present in the flaps of soft tissue that extend down from the maxilla
• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
|
|
• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla
|
|
• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone
|
absent incus
(
J:149166
)
|
• 25% of inci examined are undetectable but small nodules of undefined cartilage are present
|
|
• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type
|
|
• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present
|
|
• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone
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hearing/vestibular/ear
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• incus is malformed and contains several processes articulated with the pterygoid in the skull base via an ectopic bone
|
absent incus
(
J:149166
)
|
• 25% of inci examined are undetectable but small nodules of undefined cartilage are present
|
|
• 75% of mallei examined are enlarged in one or both sides of the skull; some are longer or wider than wild-type
|
|
• 25% of mallei examined are undetectable but small nodules of undefined cartilage are present
|
|
• in many embryos at E18.5 the stapes on one or both sides of skull is attached to the greater horn of the hyoid bone
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digestive/alimentary system
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• tongue hypoplasia is present
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growth/size/body
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• incisor polarity is reversed in most embryos, with teeth projecting downward
|
|
• at E18.5, lower jaw contains mystacial vibrissae, normally only present on snout
• lower incisors are present but primarily set in mesenchyme rather than bone;in severely affected embryos, incisors are present in the flaps of soft tissue that extend down from the maxilla
• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
|
|
• at E18.5, lower jaw is shortened and flattened; on ventral view, mandible resembles a small maxilla
|
|
• rugae (raised epithelial ridges) are present on the floor of the mouth, rather than being confined to the palate as in controls
|
|
• tongue hypoplasia is present
|
facial cleft
(
J:149166
)
|
• midline mandibular cleft is observed; in subset of more severely affected embryos, mandibular arch halves appear as large flaps of soft tissue that have failed to fuse
|
