Analysis Tools
integument
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• newborns exhibit thin/eroded epidermis of the midline scalp
• a thinned epidermis with a flat Krt5+ basal layer overlying the interfrontal suture is noted at PO
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skin lesions
(
J:344153
)
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• aplasia cutis congenita (ACC)-like lesions occur along abnormal interfrontal or sagittal sutures and show a thin epidermis with a flat Krt5+ basal layer
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craniofacial
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• at P0, mice show abnormal, overextended midline cranial sutures with a receded osteogenic front
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• at P0, mice show an increased distance between frontal bones at the site where the interfrontal suture crosses with the coronal suture
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• at P0, mice exhibit shortened frontal bones
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• at P0, mice exhibit absence of mandibular and maxillary incisors
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• absence of mandibular incisors at P0
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• absence of maxillary incisors at P0
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• newborns show congenital bone/suture defects of neural crest cell (NCC)-derived structures of the midline skull associated with overlying membranous aplasia cutis congenita (ACC)-like skin defects with epidermal thinning
• midline skull/suture defects likely cause ACC as a result of reduced spatiotemporal expression of keratinocyte-promoting growth factors at that site
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• at P0, mice exhibit nasal airway abnormalities
• flat nasal structures are noted at E17.0
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• microCT images show loss of nasal bones at P0
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• at P0, mice exhibit diminished nasal bones
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• at P0, mice exhibit diminished nasal cartilage
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nervous system
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• at P0, mice display a cutaneous midline scalp mass consisting of heterotopic beta3-tubulin+ neuronal tissue, similar to heterotopic brain tissue observed at skin sites adjacent to membranous ACC lesions in patients
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vision/eye
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• open eyes with abnormal eyelids are noted at E17.0 and P0
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• mice have open eyelids at P0
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cardiovascular system
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• at P0, mice show cardiac defects, including subaortic membranous ventricular septal defects (VSDs), an overriding aorta, and bicuspid aortic valves
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• at PO, hearts show an overriding aorta
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• mice exhibit congenital subaortic membranous VSDs
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• at PO, hearts show bicuspid aortic valves
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growth/size/body
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• at P0, mice exhibit absence of mandibular and maxillary incisors
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• absence of mandibular incisors at P0
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• absence of maxillary incisors at P0
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• at P0, mice exhibit nasal airway abnormalities
• flat nasal structures are noted at E17.0
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• microCT images show loss of nasal bones at P0
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• at P0, mice exhibit diminished nasal bones
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• at P0, mice exhibit diminished nasal cartilage
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• newborns exhibit thin/eroded epidermis of the midline scalp; whole-mount Krt5 and ILB4 immunolabeling of scalp skin shows an aplasia cutis congenita (ACC)-like region
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skeleton
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• at P0, mice show abnormal, overextended midline cranial sutures with a receded osteogenic front
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• at P0, mice show an increased distance between frontal bones at the site where the interfrontal suture crosses with the coronal suture
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• at P0, mice exhibit shortened frontal bones
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• at P0, mice exhibit absence of mandibular and maxillary incisors
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• absence of mandibular incisors at P0
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• absence of maxillary incisors at P0
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• microCT images show loss of nasal bones at P0
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• at P0, mice exhibit diminished nasal bones
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• at P0, mice exhibit diminished nasal cartilage
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• at P0, mice show reduced ossification along the interfrontal and sagittal sutures and expanded non-ossified area at that site
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• at P0, mice show delayed frontal bone ossification along the interfrontal suture
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• at P0, mice delayed ossification of the interfrontal suture
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respiratory system
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• at P0, mice exhibit nasal airway abnormalities
• flat nasal structures are noted at E17.0
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• microCT images show loss of nasal bones at P0
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• at P0, mice exhibit diminished nasal bones
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• at P0, mice exhibit diminished nasal cartilage
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