mortality/aging
• about 2/3 of homozygous pups die at birth
|
nervous system
• about 50% of homozygous embryos display neural tube defects
|
spina bifida
(
J:101350
)
• about 7% of surviving homozygotes display sacral spina bifida with a curl proximal to the tail root and an open spinal cord and vertebral canal covered by skin shortly after birth
• pups that die immediately after birth have severe open spine defects and at E18.5 about 20% of homozygotes display spina bifida
|
• in pups that die at birth craniorrhachischisis is occasionally seen
|
exencephaly
(
J:101350
)
• at E14.5 exencephaly is seen and increased apoptosis is seen at E9.5 in the hindbrain of all exencephalic embryos
|
skeleton
• asymmetric attachment of the ribs to the sternum is seen in 75% of homozygotes
|
• vertebral malformations including in some severely affected pups rachischisis and craniorrhachischisis
|
• bone remodeling is seen in the tail; however chondrogenesis is normal
|
embryo
• about 50% of homozygous embryos display neural tube defects
|
spina bifida
(
J:101350
)
• about 7% of surviving homozygotes display sacral spina bifida with a curl proximal to the tail root and an open spinal cord and vertebral canal covered by skin shortly after birth
• pups that die immediately after birth have severe open spine defects and at E18.5 about 20% of homozygotes display spina bifida
|
• in pups that die at birth craniorrhachischisis is occasionally seen
|
reproductive system
|
• surviving males are infertile
|
limbs/digits/tail
• bone remodeling is seen in the tail; however chondrogenesis is normal
|
growth/size/body
omphalocele
(
J:101350
)
• in some pups that die at birth and in some embryos at E14.5 omphalocele is occasionally seen
|
cellular