craniofacial
short snout
(
J:8685
)
shortened head
(
J:8685
)
• obvious by 15 days of age
|
growth/size/body
short snout
(
J:8685
)
shortened head
(
J:8685
)
• obvious by 15 days of age
|
• mild, disproportionate dwarfism is seen by the onset of the third week following birth
|
limbs/digits/tail
brachydactyly
(
J:8685
)
short femur
(
J:8685
)
short tibia
(
J:8685
)
• distal parts of the extremities are more affected than the proximal parts
|
skeleton
• the epiphyseal bone displays a gracile spongiosa and a thin cortex
|
• the primary metaphyseal spongy bone is poorly developed and extremely fragile
|
short femur
(
J:8685
)
short tibia
(
J:8685
)
• primary metaphyseal spongy bone is poorly developed and extremely fragile while the epiphyseal bone shows a gracile spongiosa
• bone trabeculae is considerably coarser and more irregular in the metaphysis
|
• irregular mineralization of cartilage, extensive cell death and accumulations of matrix vesicles in the extracellular matrix
|
• increase in height of the epiphyseal growth cartilage
• the extracellular matrix of the resting epiphyseal zone contains enormous amounts of membranous material with varying shape and electron density and matrix vesicles
|
• proliferative zone contains disintegrating cells and the normal columnar organization is severely disturbed
|
• areas with thin-walled blood vessels are sometimes observed in the hypertrophic zone
• extracellular matrix of the hypertrophic zone contains very high amounts of membranous material and matrix vesicles
|
• chondroitin sulfate chains are considerably longer than in normal mice
|
• mineralization of cartilage in the tibia is irregular, with some mutants showing strands of residual unmineralized cartilage that extends far down into the metaphysis
|
reproductive system
• litter size from most of cby by cby matings are small, probably due to the tendency, in successive breeding by such matings, for the cby females to become smaller in overall size
|