mortality/aging
• most mice do not survive more than 7 days
|
craniofacial
• newborns have abnormal oral fissures
|
• P0 mice exhibit malformed molar germs and incisor germs
|
• P0 mice exhibit enamel dysplasia
|
• E14.5 embryos exhibit a delay in development of the palate such that palatal shelves do not reach the midline of the palate from the anterior palate, medial, to the posterior palate
• palatal shelves at E15.5 have elevated, however the anterior palate, medial, and posterior palate have a fusion failure of palatal shelves
• at E16.5, mice show a complete cleft palate from the anterior palate, medial, to the posterior palate
• palatal mesenchyme shows decreased apoptosis and increased proliferation at E14.5
|
• palatal mesenchyme shows increased proliferation at E14.5
|
• palatal shelves display developmental defects
|
cleft palate
(
J:367731
)
• P0 mice exhibit a complete cleft palate with 28.57% penetrance
|
growth/size/body
• newborns have abnormal oral fissures
|
• P0 mice exhibit malformed molar germs and incisor germs
|
• P0 mice exhibit enamel dysplasia
|
• E14.5 embryos exhibit a delay in development of the palate such that palatal shelves do not reach the midline of the palate from the anterior palate, medial, to the posterior palate
• palatal shelves at E15.5 have elevated, however the anterior palate, medial, and posterior palate have a fusion failure of palatal shelves
• at E16.5, mice show a complete cleft palate from the anterior palate, medial, to the posterior palate
• palatal mesenchyme shows decreased apoptosis and increased proliferation at E14.5
|
• palatal mesenchyme shows increased proliferation at E14.5
|
• palatal shelves display developmental defects
|
cleft palate
(
J:367731
)
• P0 mice exhibit a complete cleft palate with 28.57% penetrance
|
cardiovascular system
• body surface of hearts is pale suggesting insufficient blood supply
• E14.5 embryos exhibit cardiac defects such as rounded ventricular wall or ventricular septal defect and loosely arranged cardiomyocytes
|
• ventricular septal defect is seen at E14.5
|
• rounded ventricular wall at E14.5
|
limbs/digits/tail
ectrodactyly
(
J:367731
)
• ectrodactyly in the forefoot at E14.5
|
kinked tail
(
J:367731
)
digestive/alimentary system
• E14.5 embryos exhibit a delay in development of the palate such that palatal shelves do not reach the midline of the palate from the anterior palate, medial, to the posterior palate
• palatal shelves at E15.5 have elevated, however the anterior palate, medial, and posterior palate have a fusion failure of palatal shelves
• at E16.5, mice show a complete cleft palate from the anterior palate, medial, to the posterior palate
• palatal mesenchyme shows decreased apoptosis and increased proliferation at E14.5
|
• palatal mesenchyme shows increased proliferation at E14.5
|
• palatal shelves display developmental defects
|
cleft palate
(
J:367731
)
• P0 mice exhibit a complete cleft palate with 28.57% penetrance
|
skeleton
• P0 mice exhibit malformed molar germs and incisor germs
|
• P0 mice exhibit enamel dysplasia
|
vision/eye
• ocular abnormalities are seen at E14.5, including slight microphthalmia with a slightly abnormal pupil shape, moderate microphthalmia, and severe microphthalmia
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
EEC syndrome | DOID:0060782 | J:367731 |