growth/size/body
short snout
(
J:59887
)
• narrow thorax
|
skeleton
• slightly larger skull
|
short femur
(
J:59887
)
• 16% shortening of the femur
|
short tibia
(
J:59887
)
• 9% shortening of the tibia
|
• some irregularly arranged chondrocytes are seen along the columns
• some mice show foci of vascularization and transverse tunneling of the cartilage in the growth plate
• growth plates in 1-week old mice exhibit decreased cell proliferation
|
• shorter chondrocyte columns with less proliferative cells
|
• shorter chondrocyte columns with less proliferative and hypertrophic cells
• growth plates of distal bones are less affected
• older mice show a marked reduction in the column size of growth plates due to less proliferating and hypertrophic chondrocytes
|
• narrowing of the spinal column
|
• mice show a delay in chondrocyte maturation, delay in chondrocyte terminal differentiation within the secondary ossification centers (replacement of cartilage by bone and vascular invasion within secondary ossification centers is not seen at 2 months of age), and a delay in mineralization
|
craniofacial
• slightly larger skull
|
short snout
(
J:59887
)
limbs/digits/tail
short femur
(
J:59887
)
• 16% shortening of the femur
|
short tibia
(
J:59887
)
• 9% shortening of the tibia
|
short limbs
(
J:59887
)
• mild shortening and broadening of extremities, particularly the proximal segments of long bones
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
achondroplasia | DOID:4480 |
OMIM:100800 |
J:59887 |