Analysis Tools
mortality/aging
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• 45% of mice die within 6 months and the remaining 20% survive to adulthood
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• about 35% of mice die before P20
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growth/size/body
malocclusion
(
J:283626
)
|
• underdeveloped midface accompanied by malocclusion
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• weight at birth is 90% of wild-type and by 3 weeks of age, mice are 40-50% smaller than controls
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• severe growth retardation
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craniofacial
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• mutants exhibit mild craniofacial malformation beginning from E16.5 and show more obvious head malformation with age
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• some mice show a distorted skull
• the distance between nasale and nasion is the most severely affected distance
• increase in skull breadth
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• mutants show cartilages in the sagittal sutures at P2, indicating abnormal cartilage formation at the sagittal sutures
• cartilage is not present in the posterior frontal sutures at P8 and the sutures remain patent at P17
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• mice show growth retardation of the synchondroses of cranial base
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• the cranial width is increased between paired frontal bones and less increased between paired parietal bones
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malocclusion
(
J:283626
)
|
• dome-shaped skulls are seen beginning at E16.5
|
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• underdeveloped midface accompanied by malocclusion
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cellular
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• marker analysis suggests enhanced osteoblast differentiation in the cranium
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skeleton
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• marker analysis suggests enhanced osteoblast differentiation in the cranium
|
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• some mice show a distorted skull
• the distance between nasale and nasion is the most severely affected distance
• increase in skull breadth
|
|
• mutants show cartilages in the sagittal sutures at P2, indicating abnormal cartilage formation at the sagittal sutures
• cartilage is not present in the posterior frontal sutures at P8 and the sutures remain patent at P17
|
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• mice show growth retardation of the synchondroses of cranial base
|
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• the cranial width is increased between paired frontal bones and less increased between paired parietal bones
|
malocclusion
(
J:283626
)
|
• dome-shaped skulls are seen beginning at E16.5
|
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• appearance of the first and second ossification centers is delayed in tibial epiphysis
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• long bones show shortened zones of proliferating chondrocytes
• number of proliferating chondrocytes in growth plates of the proximal tibia is decreased
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• long bones show shortened zones of hypertrophic chondrocytes
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• long bones show decreased trabecular bone areas in the growth plates
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• long bones show decreased trabecular bone areas in the growth plates
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• mice show growth retardation of the synchondroses of growth plates of long bones
• retarded growth of synchondroses is seen at the late embryonic period and results in shortening of the cranial base
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• endochondral ossification is retarded, with mice showing shortened synchondroses of cranial base in late embryonic and neonatal stages and delayed appearance of ossification centers in tibia and retarded long bone growth
• treatment of cultured femur with PD98059, an ERK1/2 inhibitor, results in partially alleviated growth retardation of femur
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• mice show delayed fusion of posterior frontal sutures
• however, premature fusion of the intersphenoidal and sphenooccipital synchondroses is not seen
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• accelerated intramembranous ossification in the cranium, which is apparent at late embryonic stages
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• mice have fewer mesenchymal cells between the osteogenic fronts of the frontal and parietal bones and coronal sutures close prematurely
• treatment of cultured calvaria and femur with PD98059, an ERK1/2 inhibitor, results in partially alleviated coronal suture fusion
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embryo
limbs/digits/tail
syndactyly
(
J:283626
)
|
• 3 mice show syndactyly
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vision/eye
respiratory system
| N |
• no gross or histological abnormalities are seen in the lungs
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cardiovascular system
| N |
• no gross or histological abnormalities are seen in the heart
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| acrocephalosyndactylia | DOID:12960 |
OMIM:101200 |
J:283626 | |
