mortality/aging
• homozygotes develop to term but die during birth or shortly thereafter
|
limbs/digits/tail
• at E17.5, mutant embryos display variable reductions of their forelimbs
|
• in most cases, a malformed humerus is present at E17.5
|
• at E17.5, mutant embryos display variable reductions of their hindlimbs
|
• in most cases, a malformed femur is present at E17.5
|
• mutant embryos fail to maintain gene activities initiated by FGF and Wnt signaling required for proximodistal limb outgrowth
• in most cases, the humerus and femur are generated but malformed, whereas the more distal parts of the limbs are variably affected
|
• initial generation of the AER by Wnt3 remains affected; however, expression of Fgfs and limb patterning genes is significantly altered, resulting in impaired AER maintenance and defective limb outgrowth
|
• at E10.5, mutant embryos exhibit apoptotic cell death in the mesenchyme and ectoderm of the forelimb bud, as revealed by TUNEL staining; little or no apoptosis is noted in the control forelimb bud
|
short limbs
(
J:86325
)
• at E17.5, mutant embryos display variable truncations of both fore- and hindlimbs
|
embryo
• mutant embryos display severe truncations of the posterior axial skeleton
|
• initial generation of the AER by Wnt3 remains affected; however, expression of Fgfs and limb patterning genes is significantly altered, resulting in impaired AER maintenance and defective limb outgrowth
|
• at E10.5, mutant embryos exhibit apoptotic cell death in the mesenchyme and ectoderm of the forelimb bud, as revealed by TUNEL staining; little or no apoptosis is noted in the control forelimb bud
|
spina bifida
(
J:86325
)
nervous system
spina bifida
(
J:86325
)
• mutant embryos display an acerebellar hindbrain
|
exencephaly
(
J:86325
)
• mutant embryos exhibit exencephaly at the forebrain level
|
skeleton
• in most cases, a malformed humerus is present at E17.5
|
• in most cases, a malformed femur is present at E17.5
|
respiratory system
• mutant embryos show absence of nasal structures
|
craniofacial
• mutant embryos show absence of palate structures
|
• mutant embryos show absence of nasal structures
|
digestive/alimentary system
• mutant embryos show absence of palate structures
|
growth/size/body
• mutant embryos show absence of palate structures
|
• mutant embryos show absence of nasal structures
|