homeostasis/metabolism
• autophagy is impaired in homozygous embryos at E14.5
|
mortality/aging
• at E14.5, 1 homozygous embryo is recovered
|
• only 16.3% of total number of embryos recovered between E10.5 and E14.5 are homozygous, with resorptions making up 6% of total number of embryos, while wild-type and heterozygous embryos are found at near-Mendelian ratios
|
nervous system
• from E9 onwards, excessive cell death is observed in select areas of the mutant neuroepithelium esp. within the fore- and hindbrain
regions
|
spina bifida
(
J:122795
)
• vesicles are closed but displaced in forebrain at E12.5
|
exencephaly
(
J:122795
)
• between E10-14.5, embryos display midbrain/hindbrain exencephaly with or without accompanying spina bifida; 4/27 homozygotes exhibit exencephaly only, with 6/27 embryos displaying exencephaly and spina bifida
|
• in homozygotes at E12.5, spinal cord is enlarged
|
• at E12.5, proliferative neuroepithelium shows extensive overgrowth in the diencephalon and spinal cord
|
cellular
• autophagy is impaired in homozygous embryos at E14.5
|
• from E9 onwards, excessive cell death is observed in select areas of the mutant neuroepithelium esp. within the fore- and hindbrain
regions
|
• at E8.5, a significant increase in proliferating cells in the neural folds; by 9.5, proliferation is similar in wild-type and homozygous embryos
|
embryo
• proliferating cells are significantly increased relative to wild-type at E8.5
|
spina bifida
(
J:122795
)