mortality/aging
skeleton
• at E18.5
|
• absence of the middle phalanges at E13, E14, and birth
|
• subtly abnormal in shape at birth
|
short humerus
(
J:60754
)
• 10 - 20% shorter than controls at birth
|
• severely deformed at birth
|
short radius
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
• severely deformed at birth
|
short ulna
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
• subtly abnormal in shape at birth
|
short femur
(
J:60754
)
• 10 - 20% shorter than controls at birth
|
• severely deformed at birth
|
short fibula
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
• severely deformed at birth
|
short tibia
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
rib fusion
(
J:134490
)
• present at E18.5 in all homozygotes
|
• hypoplastic and irregularly stacked at E14.5
• smaller and titled at E18.5
|
• deformed at birth
|
• at birth
|
• smaller in length and width but not grossly misshapen
|
• hypoplastic with reduction in the size of all anlagens at E14.5
|
• at E15.5 - E17.5, distal long bones fail to develop a central hypertophic zone divided by a central ossification zone and instead display eccentric hypertrophy covered by an ossified collar forming a bony knob on one side of the bone
• at E17.5, overall width of the growth plate is reduced
|
• at E17.5 the width is reduced by almost 50% compared to controls
|
• increased by 23-38% at E17.5
|
• widespread abnormalities in bones formed by endochondral ossification with a tendency for more severe abnormalities in more distal bones
• however, intramembranous ossification of bones in the skull appears normal
|
• at E15 ossification and hypertrophication are delayed in the distal limbs
(J:60754)
• delayed ossification of the metacarpals and phalanges at E18.5
(J:134490)
|
craniofacial
• at E18.5
|
cleft palate
(
J:60754
)
short snout
(
J:60754
)
• at birth
|
limbs/digits/tail
• absence of the middle phalanges at E13, E14, and birth
|
brachydactyly
(
J:60754
)
• subtly abnormal in shape at birth
|
short humerus
(
J:60754
)
• 10 - 20% shorter than controls at birth
|
• severely deformed at birth
|
short radius
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
• severely deformed at birth
|
short ulna
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
• severely misshapen at E18.5
|
• subtly abnormal in shape at birth
|
short femur
(
J:60754
)
• 10 - 20% shorter than controls at birth
|
• severely deformed at birth
|
short fibula
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
• severely deformed at birth
|
short tibia
(
J:60754
)
• 50 - 60% shorter than controls at birth
|
• fore- and hindlimb anlagen is smaller than normal at E13 and E14
(J:60754)
• at E15 distal limb anlagen is shorter and deformed
(J:60754)
• reduced size of cartilage condensations at E14.5
(J:134490)
|
• impaired segmentation of the digital rays at E14.5
|
short limbs
(
J:60754
)
• at birth
|
• deformed at birth
|
• at birth
|
short tail
(
J:60754
)
• at birth
|
digestive/alimentary system
cleft palate
(
J:60754
)
growth/size/body
• at E18.5
|
cleft palate
(
J:60754
)
short snout
(
J:60754
)
• at birth
|
respiratory system
• at E18.5
|