Analysis Tools
mortality/aging
|
• about 80% die soon after birth while 20% survive; those surviving do not exhibit cleft but have shorter faces
|
|
• about 80% die soon after birth due to facial cleft and cleft palate, however mice without cleft survive
|
embryo
|
• mutants show an increase in apoptosis in the developing frontal bone primordial mesenchymal cells at E10.5
• mutants exhibit a reduction in the number of frontal bone primordial cells at E12.5 but no changes in apoptosis or proliferation at this time
• the frontal bone primordial cells form the frontal bone matrix normally and differentiate into the frontal bones at E15.5, but their sizes are smaller
|
|
• cell density of the frontonasal mesenchyme is lower than in controls at E10.5 but not at E9.5
• an increase in apoptosis is seen in the frontonasal mesenchyme at E10.5
• however, proliferation is normal in this area
|
craniofacial
|
• calvarial ossification defects are seen in 3 week old mice showing calvarial foramina
|
|
• 100% of mice exhibit wide-open anterior fontanelles at birth
|
|
• newborns show reduced size of the frontal bones in the presence and absence of cleft face and cleft palate
|
|
• nasal processes are smaller at E10.5
• 77.8% of E11.5 embryos show an abnormally unfused nasal process
|
|
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
|
|
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
|
short face
(
J:192670
)
|
• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
|
cleft palate
(
J:192670
)
|
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
|
|
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
|
facial cleft
(
J:192670
)
|
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• 75% of embryos exhibit facial cleft at E13.5 and E15.5 (after completion of upper lip formation)
|
cardiovascular system
|
• 50% of mutants with facial cleft exhibit a ventricular septum defect
|
digestive/alimentary system
cleft palate
(
J:192670
)
|
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
|
integument
belly spot
(
J:192670
)
|
• 28.6% of surviving mice without cleft face or cleft palate exhibit a belly spot
|
behavior/neurological
|
• midline fusion defects affect suckling but not breathing
|
pigmentation
belly spot
(
J:192670
)
|
• 28.6% of surviving mice without cleft face or cleft palate exhibit a belly spot
|
respiratory system
|
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
|
|
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
|
vision/eye
|
• distance between the eyes is 1.1-fold greater in mice at 3 weeks of age than in controls
|
skeleton
|
• calvarial ossification defects are seen in 3 week old mice showing calvarial foramina
|
|
• 100% of mice exhibit wide-open anterior fontanelles at birth
|
|
• newborns show reduced size of the frontal bones in the presence and absence of cleft face and cleft palate
|
|
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
|
|
• 3 week old mutants show calvarial ossification defects between the frontal bones
|
growth/size/body
|
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
|
|
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
|
short face
(
J:192670
)
|
• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
|
cleft palate
(
J:192670
)
|
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
|
|
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
|
facial cleft
(
J:192670
)
|
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• 75% of embryos exhibit facial cleft at E13.5 and E15.5 (after completion of upper lip formation)
|
|
• mutants show an increase in apoptosis in the developing frontal bone primordial mesenchymal cells at E10.5
• mutants exhibit a reduction in the number of frontal bone primordial cells at E12.5 but no changes in apoptosis or proliferation at this time
• the frontal bone primordial cells form the frontal bone matrix normally and differentiate into the frontal bones at E15.5, but their sizes are smaller
|
|
• cell density of the frontonasal mesenchyme is lower than in controls at E10.5 but not at E9.5
• an increase in apoptosis is seen in the frontonasal mesenchyme at E10.5
• however, proliferation is normal in this area
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| chromosome 10q23 deletion syndrome | DOID:0060389 |
OMIM:612242 |
J:192670 | |
| juvenile polyposis syndrome | DOID:0050787 |
OMIM:174900 |
J:192670 | |
