Analysis Tools
mortality/aging
|
• die around 6 months of age
|
skeleton
|
• narrowing of the cranial neural foramina
|
|
• foramen magnum is reduced in all dimensions
|
|
• thickened calvaria
|
|
• incus is fused to the malleus
|
|
• increased radiolucency of metaphyses
• increased porosity
• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis
• mineral content of central cortical bone is reduced
|
|
• club shaped femurs
|
short femur
(
J:168526
)
|
• small but significant decrease in femur length relative to controls at 10 weeks of age
|
|
• increased diameter of the cortical bone
|
|
• fewer osteoclasts are formed during in vitro differentiation
|
|
• increased bone mineral content as determined by densitometry
• ash weight is lower than controls
|
|
• increased radiopacity of skulls and mandibles measured at 1, 3, and 6 months of age
• increased bone mineral density as determined by densitometry
• increase in bone mineral density of the femur is not significant
|
hyperostosis
(
J:168526
)
|
• hyperosteosis at 3 months of age, particularly the cranial base and mandible
|
|
• hyperosteosis at 3 months of age, particularly the cranial base and mandible
|
|
• hyperosteosis of the mandible
• mandible bone mass significantly increased
|
|
• stiffness of joints observed at 4-5 weeks of age
|
homeostasis/metabolism
|
• increased circulating levels of acid phosphatase 5, tartrate resistant (TRACP) at 10 weeks of age
|
|
• at 10 weeks of age
|
growth/size/body
|
• hyperosteosis of the mandible
• mandible bone mass significantly increased
|
|
• obliterated nasal sinuses
|
|
• weight after weaning is less than for control mice
|
|
• shorter body length than for control and heterozygous mice
|
craniofacial
|
• narrowing of the cranial neural foramina
|
|
• foramen magnum is reduced in all dimensions
|
|
• thickened calvaria
|
|
• incus is fused to the malleus
|
|
• hyperosteosis at 3 months of age, particularly the cranial base and mandible
|
|
• hyperosteosis of the mandible
• mandible bone mass significantly increased
|
|
• obliterated nasal sinuses
|
behavior/neurological
|
• unable to grab cage bars at 4-5 weeks of age
|
hearing/vestibular/ear
|
• incus is fused to the malleus
|
limbs/digits/tail
|
• increased radiolucency of metaphyses
• increased porosity
• metaphyseal trabeculae reduced in both thickness and number but extend into the diaphysis
• mineral content of central cortical bone is reduced
|
|
• club shaped femurs
|
short femur
(
J:168526
)
|
• small but significant decrease in femur length relative to controls at 10 weeks of age
|
|
• increased diameter of the cortical bone
|
hematopoietic system
|
• fewer osteoclasts are formed during in vitro differentiation
|
immune system
|
• fewer osteoclasts are formed during in vitro differentiation
|
respiratory system
|
• obliterated nasal sinuses
|
cellular
|
• fewer osteoclasts are formed during in vitro differentiation
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| craniometaphyseal dysplasia | DOID:0080033 |
OMIM:PS123000 |
J:168526 | |
