Phenotypes Associated with This Genotype

Genotype
MGI:3716751

• Allelic Composition: Ambra1^{Gt(pGT1.8geo)1Fcec}/Ambra1^{Gt(pGT1.8geo)1Fcec}
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

impaired autophagy ( J:122795 )

• autophagy is impaired in homozygous embryos at E14.5

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:122795 )

• at E14.5, 1 homozygous embryo is recovered

embryonic lethality during organogenesis, incomplete penetrance ( J:122795 )

• 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

increased embryonic neuroepithelium apoptosis ( J:122795 )

• 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 )

abnormal telencephalon development ( 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

increased spinal cord size ( J:122795 )

• in homozygotes at E12.5, spinal cord is enlarged

increased embryonic neuroepithelial cell proliferation ( J:122795 )

• at E12.5, proliferative neuroepithelium shows extensive overgrowth in the diencephalon and spinal cord

cellular

impaired autophagy ( J:122795 )

• autophagy is impaired in homozygous embryos at E14.5

increased embryonic neuroepithelium apoptosis ( J:122795 )

• from E9 onwards, excessive cell death is observed in select areas of the mutant neuroepithelium esp. within the fore- and hindbrain regions

increased cell proliferation ( J:122795 )

• 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

abnormal neural fold formation ( J:122795 )

• proliferating cells are significantly increased relative to wild-type at E8.5

spina bifida ( J:122795 )