mortality/aging
• perinatal lethality probably related to impaired diaphragm development is seen
|
cellular
• proliferation of the muscle progenitor cells is reduced about 40% compared to wild-type
|
muscle
• development of the diaphragm is impaired as a result of impaired progenitor cell migration
|
• forelimb muscles and hindlimb palm muscles are absent and hindlimb muscles are reduced
|
nervous system
spina bifida
(
J:90568
)
• failure of neural tube closure is seen at about the same rate as in Pax3Sp heterozygotes
|
embryo
spina bifida
(
J:90568
)
• failure of neural tube closure is seen at about the same rate as in Pax3Sp heterozygotes
|
integument
N |
• no melanocyte abnormalities are seen
|