Analysis Tools
mortality/aging
craniofacial
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• perinatal skulls show exacerbated neurocranial, splanchnocranial, and dermatocranial defects relative to the single Gas1tm1Fan homozygotes
• midline craniofacial phenotype is significantly worsened relative to that in single Gas1tm1Fan homozygotes
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• Meckels cartilage is truncated and lacks a malleal end; the proximal end is slightly bifurcated
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• perinatal skull size is reduced
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• neurocranial base development is severely disrupted: the trabecular basal plate, which runs from the rostral basisphenoid, presphenoid, and ethmoid through the nasal septum, is discontinuous and cleft
• all lateral extensions from the neurocranial base are disrupted: the ala temporali are hypoplastic, the lamina obturans fail to invest the cartilage of the ala, and ectopic preotic cartilaginous pillars extend toward the crista parotica of the otic capsule
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• at E18.5, 75% of mice exhibit clefting of the basisphenoid
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• the ala temporali are hypoplastic
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• squamosal bones are repatterned and separated into distinct retrotympanic and squamosal portions
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• at E18.5, 25% of mice show fusion of the premaxillary incisors, 75% of mice show premaxillary incisor agenesis, and 75% show fusion of the mandibular incisors
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• at E18.5, the distal dentary contains a single lower incisor
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• at E18.5, the duplicated proximal dentary includes an alveolus containing an ectopic molar
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• at E18.5, the proximal dentary appears to be duplicated and includes a secondary cartilage-containing condylar process and an alveolus containing an ectopic molar
• the distal dentary is synostotic across the midline and contains a single lower incisor
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• at E18.5, the distal dentary lacks a symphysis as it is synostotic across the midline; 75% of mice exhibit a synostotic mandible/symphysis phenotype
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• at E18.5, premaxillaries are hypoplastic, synostotic, and lack incisor teeth
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absent incus
(
J:122159
)
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• gonial bones fail to form
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• a vestigial stapes is observed
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• nasal capsules and associated dermal ossifications are severely reduced, without proper midline manifestations
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• at E18.5, all (100%) of mice exhibit complete secondary cleft palate
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• mice survive to birth but only have a single external nostril
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growth/size/body
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• at E18.5, 25% of mice show fusion of the premaxillary incisors, 75% of mice show premaxillary incisor agenesis, and 75% show fusion of the mandibular incisors
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• at E18.5, the distal dentary contains a single lower incisor
|
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• at E18.5, the duplicated proximal dentary includes an alveolus containing an ectopic molar
|
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• nasal capsules and associated dermal ossifications are severely reduced, without proper midline manifestations
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• at E18.5, all (100%) of mice exhibit complete secondary cleft palate
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• mice survive to birth but only have a single external nostril
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nervous system
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• mice exhibit a more severe holoprosencephaly phenotype than single Gas1tm1Fan homozygotes
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respiratory system
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• nasal capsules and associated dermal ossifications are severely reduced, without proper midline manifestations
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• mice survive to birth but only have a single external nostril
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skeleton
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• perinatal skulls show exacerbated neurocranial, splanchnocranial, and dermatocranial defects relative to the single Gas1tm1Fan homozygotes
• midline craniofacial phenotype is significantly worsened relative to that in single Gas1tm1Fan homozygotes
|
|
• Meckels cartilage is truncated and lacks a malleal end; the proximal end is slightly bifurcated
|
|
• perinatal skull size is reduced
|
|
• neurocranial base development is severely disrupted: the trabecular basal plate, which runs from the rostral basisphenoid, presphenoid, and ethmoid through the nasal septum, is discontinuous and cleft
• all lateral extensions from the neurocranial base are disrupted: the ala temporali are hypoplastic, the lamina obturans fail to invest the cartilage of the ala, and ectopic preotic cartilaginous pillars extend toward the crista parotica of the otic capsule
|
|
• at E18.5, 75% of mice exhibit clefting of the basisphenoid
|
|
• the ala temporali are hypoplastic
|
|
• squamosal bones are repatterned and separated into distinct retrotympanic and squamosal portions
|
|
• at E18.5, 25% of mice show fusion of the premaxillary incisors, 75% of mice show premaxillary incisor agenesis, and 75% show fusion of the mandibular incisors
|
|
• at E18.5, the distal dentary contains a single lower incisor
|
|
• at E18.5, the duplicated proximal dentary includes an alveolus containing an ectopic molar
|
|
• at E18.5, the proximal dentary appears to be duplicated and includes a secondary cartilage-containing condylar process and an alveolus containing an ectopic molar
• the distal dentary is synostotic across the midline and contains a single lower incisor
|
|
• at E18.5, the distal dentary lacks a symphysis as it is synostotic across the midline; 75% of mice exhibit a synostotic mandible/symphysis phenotype
|
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• at E18.5, premaxillaries are hypoplastic, synostotic, and lack incisor teeth
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absent incus
(
J:122159
)
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• gonial bones fail to form
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• a vestigial stapes is observed
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• nasal capsules and associated dermal ossifications are severely reduced, without proper midline manifestations
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synostosis
(
J:122159
)
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• at E18.5, 100% of premaxillaries are synostotic
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• no patent sutures between the frontal and parietal ossifications are observed
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hearing/vestibular/ear
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• middle ear-associated splanchnocranial elements either fail to develop (malleus and incus) or are represented by a cartilaginous remnant (stapes)
• dermatocranial elements (ectotympanic and gonial bones) fail to form
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absent incus
(
J:122159
)
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• gonial bones fail to form
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• a vestigial stapes is observed
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• ectotympanic bones fail to form
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digestive/alimentary system
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• at E18.5, all (100%) of mice exhibit complete secondary cleft palate
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