mortality/aging
• the Mendelian ratio is normal from E9.5 to E18.5; however, no pups are found after birth
|
embryo
• aboral mesenchymal cells of the first branchial arch exhibit increased apoptosis
• however, mesenchymal cell proliferation is normal
|
• at E10 - E10.5, expression of several marker genes is reduced
• at E11.5, the AER in the hindlimbs are absent or less organized with reduced numbers of epithelial cells
|
limbs/digits/tail
• absence of ossification of the most distal phalangeal bones of the forelimbs
|
• severely stunted on the hindlimbs
• stunting is more severe on the left hindlimb than on the right hindlimb
|
syndactyly
(
J:126341
)
• on the hindlimbs but not the forelimbs
|
short fibula
(
J:126341
)
• severely stunted
• stunting is more severe on the left hindlimb than on the right hindlimb
|
• severely stunted
• stunting is more severe on the left hindlimb than on the right hindlimb
|
• anterior-posterior patterning regulated by Shh is disrupted in the left hindlimbs and to a lesser extent in the right hindlimbs
• significant increase in apoptosis of mesenchymal cells within the posterior region of the hindlimbs
• however, cell proliferation is unchanged
|
• at E10 - E10.5, expression of several marker genes is reduced
• at E11.5, the AER in the hindlimbs are absent or less organized with reduced numbers of epithelial cells
|
respiratory system
• pulmonary vascular defects in embryos
|
craniofacial
• short
|
• mice exhibit malformed molar alveolus of dentary
|
• reduced and smaller in size
|
• reduced and smaller in size
|
• the palatine processes are underdeveloped and remain unfused unlike in wild-type mice
|
• the zygomatic process of the maxilla is truncated, thickened, and fused with the zygomatic process of the squamosal without a connection via the jugal bone
|
• slightly reduced in size
|
• the cleft of the palatal shelves is not due to intrinsic palatal shelf defects
• at E15.5, palate shelves remain unfused
|
• aboral mesenchymal cells of the first branchial arch exhibit increased apoptosis
• however, mesenchymal cell proliferation is normal
|
cleft palate
(
J:126341
)
• at E18.5, 71% of mice exhibit cleft secondary palate without cleft lip
|
• between E13.5 and E14.5, the tongue fails to move downward obstructing and delaying bilateral, horizontal elevation of the palatal shelves
|
renal/urinary system
• sporadic absence of discernable kidneys
|
cardiovascular system
• pulmonary vascular defects in embryos
|
digestive/alimentary system
• the palatine processes are underdeveloped and remain unfused unlike in wild-type mice
|
• the cleft of the palatal shelves is not due to intrinsic palatal shelf defects
• at E15.5, palate shelves remain unfused
|
cleft palate
(
J:126341
)
• at E18.5, 71% of mice exhibit cleft secondary palate without cleft lip
|
• between E13.5 and E14.5, the tongue fails to move downward obstructing and delaying bilateral, horizontal elevation of the palatal shelves
|
• between E13.5 and E14.5, the tongue fails to move downward
|
skeleton
• short
|
• mice exhibit malformed molar alveolus of dentary
|
• reduced and smaller in size
|
• reduced and smaller in size
|
• the palatine processes are underdeveloped and remain unfused unlike in wild-type mice
|
• the zygomatic process of the maxilla is truncated, thickened, and fused with the zygomatic process of the squamosal without a connection via the jugal bone
|
• slightly reduced in size
|
• absence of ossification of the most distal phalangeal bones of the forelimbs
|
• severely stunted on the hindlimbs
• stunting is more severe on the left hindlimb than on the right hindlimb
|
short fibula
(
J:126341
)
• severely stunted
• stunting is more severe on the left hindlimb than on the right hindlimb
|
• severely stunted
• stunting is more severe on the left hindlimb than on the right hindlimb
|
• absence of ossification of the most distal phalangeal bones of the forelimbs
|
integument
• absence of claws on the forelimbs and hindlimbs
|
hearing/vestibular/ear
• shorter and thinner
|
growth/size/body
• mice exhibit malformed molar alveolus of dentary
|
• the palatine processes are underdeveloped and remain unfused unlike in wild-type mice
|
• the cleft of the palatal shelves is not due to intrinsic palatal shelf defects
• at E15.5, palate shelves remain unfused
|
• aboral mesenchymal cells of the first branchial arch exhibit increased apoptosis
• however, mesenchymal cell proliferation is normal
|
cleft palate
(
J:126341
)
• at E18.5, 71% of mice exhibit cleft secondary palate without cleft lip
|
• between E13.5 and E14.5, the tongue fails to move downward obstructing and delaying bilateral, horizontal elevation of the palatal shelves
|