Analysis Tools
mortality/aging
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• mice are born at normal Mendelian ratios but die within 2-3 h after birth likely due to congenital heart defects
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cardiovascular system
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• all embryos exhibit complete atrioventricular septum defect at E14.5
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homeostasis/metabolism
respiratory system
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• at E14.5, the size of the growing nasal septum is reduced toward the ventral side
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• mice exhibit panting at postpartum
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craniofacial
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• frontal part of the cranial base is dysmorphic at E18.5; the spheno-ethmoidal and intrasphenoidal synchondroses are cleaved in the midline of the cranial base
• no cartilaginous tissues are present in unmineralized areas in the midline of the cranial base at E18.5
• at E18.5, the cranial base is longitudinally shortened and bilaterally expanded, with a big gap in the midline cartilaginous structures including the synchondrosis
• at E14.5, the cranial base is already partially fused at intrasphenoidal and spheno-occipital synchondroses and shows an abnormal gap in the midline
• no condensation of ectomesenchymal cells is detectable in the developing cranial base at E12.5
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• at E18.5, the basioccipital bone occasionally shows a gap filled with fibroblastic-like cells in the mid-sagittal portion of the calcified tissues surrounded by well-defined periosteum at both ends
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• cranial base is longitudinally shorter at E18.5, as determined by the distance from the anterior border of maxilla to the anterior edge of basioccipital bone
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• at E18.5, the spheno-ethmoidal and intrasphenoidal synchondroses are cleaved in the midline of the cranial base
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• no defined intrasphenoidal synchondrosis connecting the presphenoid and the basisphenoid is detected at E18.5
• a bilateral pair of rod-like trabecular cartilages are not fused in the midline and are instead filled with fibrous connective tissues
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• at E18.5, the spheno-occipital synchondrosis is partially cleaved and longitudinally elongated compared to the other synchondroses
• cartilage tissues of spheno-occipital synchondrosis appear to expand laterally and thicken dorso-ventrally but fail to fuse in the midline
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• contour of the frontal bone to the nasal bone is steeper
• however, no obvious changes are detected in the morphology or length of the calvarium
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• marked defects in sphenoidal bones at E18.5
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• at E18.5, the width of the basisphenoid is significantly increased relative to that in wild-type controls
• at E14.5, the primordium of basisphenoid is not properly shaped, presenting a huge hall in the middle
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• round foramen in the midline of the basisphenoid at E18.5
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• presphenoid is sometimes totally absent at E18.5
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• presphenoid is severely hypomorphic at E18.5
• the cartilaginous primordium of presphenoid is absent at E14.5
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• a huge solitary upper incisor is found in the premaxilla at E18.5
• no unmineralized mid-sagittal mesenchymal structures are observed
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• no tooth buds are seen at E18.5 or a single hall is occasionally observed at the center
• no gross abnormalities are seen on other parts of tooth germs including molars
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• at E14.5, the bilateral dental laminae are formed in close proximity and fused to form single and a shallow invagination in the midline with excess condensation of ectomesenchymal cells
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• at E18.5, premaxillary bones are fused in the midline completely or incompletely, sometimes with a single hall at the center
• premaxillary shelves are hypomorphic or missing at E18.5
• fused premaxilla are occasionally observed at E14.5
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• at E14.5, ectomesenchymal cells condense only at the tip of the nasal septum, possibly corresponding to the midline fusion of the vomer wings seen at E18.5
• bilateral vomer wings are already fused and filled with bone at E18.5; no unmineralized mid-sagittal mesenchymal structures are observed
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• mice exhibit a dome-shaped cranium at postpartum, due to the presence of a shorter cranial base against the normal growing calvarium
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• approximately one third of mice exhibit cleft lip and/or cleft palate at E18.5
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cleft palate
(
J:257068
)
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• approximately one third of mice exhibit cleft lip and/or cleft palate at E18.5
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• approximately one third of mice exhibit an unfused secondary palate at E18.5
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• at E14.5, the size of the growing nasal septum is reduced toward the ventral side
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skeleton
| N |
• primary rib chondrocytes isolated from E18.5 embryos show normal induction of Gli1 expression in response to smoothened agonist (SAG), suggesting that the transcriptional response to hedgehog signaling is normal
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• frontal part of the cranial base is dysmorphic at E18.5; the spheno-ethmoidal and intrasphenoidal synchondroses are cleaved in the midline of the cranial base
• no cartilaginous tissues are present in unmineralized areas in the midline of the cranial base at E18.5
• at E18.5, the cranial base is longitudinally shortened and bilaterally expanded, with a big gap in the midline cartilaginous structures including the synchondrosis
• at E14.5, the cranial base is already partially fused at intrasphenoidal and spheno-occipital synchondroses and shows an abnormal gap in the midline
• no condensation of ectomesenchymal cells is detectable in the developing cranial base at E12.5
|
|
• at E18.5, the basioccipital bone occasionally shows a gap filled with fibroblastic-like cells in the mid-sagittal portion of the calcified tissues surrounded by well-defined periosteum at both ends
|
|
• cranial base is longitudinally shorter at E18.5, as determined by the distance from the anterior border of maxilla to the anterior edge of basioccipital bone
|
|
• at E18.5, the spheno-ethmoidal and intrasphenoidal synchondroses are cleaved in the midline of the cranial base
|
|
• no defined intrasphenoidal synchondrosis connecting the presphenoid and the basisphenoid is detected at E18.5
• a bilateral pair of rod-like trabecular cartilages are not fused in the midline and are instead filled with fibrous connective tissues
|
|
• at E18.5, the spheno-occipital synchondrosis is partially cleaved and longitudinally elongated compared to the other synchondroses
• cartilage tissues of spheno-occipital synchondrosis appear to expand laterally and thicken dorso-ventrally but fail to fuse in the midline
|
|
• contour of the frontal bone to the nasal bone is steeper
• however, no obvious changes are detected in the morphology or length of the calvarium
|
|
• marked defects in sphenoidal bones at E18.5
|
|
• at E18.5, the width of the basisphenoid is significantly increased relative to that in wild-type controls
• at E14.5, the primordium of basisphenoid is not properly shaped, presenting a huge hall in the middle
|
|
• round foramen in the midline of the basisphenoid at E18.5
|
|
• presphenoid is sometimes totally absent at E18.5
|
|
• presphenoid is severely hypomorphic at E18.5
• the cartilaginous primordium of presphenoid is absent at E14.5
|
|
• a huge solitary upper incisor is found in the premaxilla at E18.5
• no unmineralized mid-sagittal mesenchymal structures are observed
|
|
• no tooth buds are seen at E18.5 or a single hall is occasionally observed at the center
• no gross abnormalities are seen on other parts of tooth germs including molars
|
|
• at E14.5, the bilateral dental laminae are formed in close proximity and fused to form single and a shallow invagination in the midline with excess condensation of ectomesenchymal cells
|
|
• at E18.5, premaxillary bones are fused in the midline completely or incompletely, sometimes with a single hall at the center
• premaxillary shelves are hypomorphic or missing at E18.5
• fused premaxilla are occasionally observed at E14.5
|
|
• bilateral vomer wings are already fused and filled with bone at E18.5; no unmineralized mid-sagittal mesenchymal structures are observed
• at E14.5, ectomesenchymal cells condense only at the tip of the nasal septum, possibly corresponding to the midline fusion of the vomer wings seen at E18.5
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• mice exhibit a dome-shaped cranium at postpartum, due to the presence of a shorter cranial base against the normal growing calvarium
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• 63% of mice exhibit asymmetric fusion of sternum at E18.5
• however, appendicular long bones appear morphologically normal
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growth/size/body
| N |
• mice show normal body weight at E18.5
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• a huge solitary upper incisor is found in the premaxilla at E18.5
• no unmineralized mid-sagittal mesenchymal structures are observed
|
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• no tooth buds are seen at E18.5 or a single hall is occasionally observed at the center
• no gross abnormalities are seen on other parts of tooth germs including molars
|
|
• at E14.5, the bilateral dental laminae are formed in close proximity and fused to form single and a shallow invagination in the midline with excess condensation of ectomesenchymal cells
|
|
• approximately one third of mice exhibit cleft lip and/or cleft palate at E18.5
|
cleft palate
(
J:257068
)
|
• approximately one third of mice exhibit cleft lip and/or cleft palate at E18.5
|
|
• approximately one third of mice exhibit an unfused secondary palate at E18.5
|
|
• at E14.5, the size of the growing nasal septum is reduced toward the ventral side
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• no condensation of ectomesenchymal cells is detectable in the developing cranial base at E12.5
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embryo
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• no condensation of ectomesenchymal cells is detectable in the developing cranial base at E12.5
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digestive/alimentary system
cleft palate
(
J:257068
)
|
• approximately one third of mice exhibit cleft lip and/or cleft palate at E18.5
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• approximately one third of mice exhibit an unfused secondary palate at E18.5
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bardet-Biedl syndrome 3 | DOID:0110125 |
OMIM:600151 |
J:257068 | |
