mortality/aging
• homozygotes die immediately after birth
|
limbs/digits/tail
polydactyly
(
J:90056
)
• at E16, homozygotes display polydactyly of the hindlimbs
|
short limbs
(
J:90056
)
• at E16, homozygotes have short limbs relative to wild-type mice
|
skeleton
• in mutant ribs, accelerated endochondral ossification leads to premature osteoblast differentiation
|
• beginning at E15, homozygotes exhibit a consistently thicker bone collar relative to wild-type mice
|
• histologically, E15 mutant ribs resemble E16 rather than E15 wild-type ribs; osteocalcin is detected as early as E15 in mutant ribs but remains absent in wild-type E15 and 16 ribs
• at E18, wild-type and mutant ribs are comparable in morphology, although mutant ribs have a thicker bone collar and consistently contain more trabeculae relative to wild-type
|
• at E16, mutant (but not wild-type) ribs are surrounded by a thick bone collar and contain bone trabeculae in the diaphysis, indicating advanced bone formation
|
• at E14 and E15, mutant ribs show a slight increase in hypertrophic chondrocytes relative to wild-type ribs
• at E16, chondrocyte hypertrophy is markedly increased in wild-type ribs but noticeably reduced in mutant ribs
|
nervous system
N |
• at E16, homozygotes do NOT display any overt neural tube defects
|
cellular
• in mutant ribs, accelerated endochondral ossification leads to premature osteoblast differentiation
|