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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ambra1Gt(pGT1.8geo)1Fcec
gene trap 1, Francesco Cecconi
MGI:3715977
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ambra1Gt(pGT1.8geo)1Fcec/Ambra1Gt(pGT1.8geo)1Fcec involves: C57BL/6 MGI:3716751
hm2
Ambra1Gt(pGT1.8geo)1Fcec/Ambra1Gt(pGT1.8geo)1Fcec involves: CD-1 * NMRI MGI:3716752


Genotype
MGI:3716751
hm1
Allelic
Composition
Ambra1Gt(pGT1.8geo)1Fcec/Ambra1Gt(pGT1.8geo)1Fcec
Genetic
Background
involves: C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ambra1Gt(pGT1.8geo)1Fcec mutation (0 available); any Ambra1 mutation (118 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• vesicles are closed but displaced in forebrain at E12.5
• 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




Genotype
MGI:3716752
hm2
Allelic
Composition
Ambra1Gt(pGT1.8geo)1Fcec/Ambra1Gt(pGT1.8geo)1Fcec
Genetic
Background
involves: CD-1 * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ambra1Gt(pGT1.8geo)1Fcec mutation (0 available); any Ambra1 mutation (118 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• lethality is observed with homozygous embryos comprising only 14.7% of total embryos collected between E10.5 and E13.5; resorptions make up 6.5% of total embryos recovered, while wild-type and heterozygous embryos are found at near-Mendelian ratios
• at E12.5 and E13.5, 2 and 1 homozygous embryos are recovered

nervous system
• between E10-14.5, most embryos display spina bifida with or without accompanying midbrain/hindbrain exencephaly; 11/34 embryos have both exencephaly and spina bifida, while 2/34 exhibit only spina bifida
• between E10-14.5, embryos display midbrain/hindbrain exencephaly with or without accompanying spina bifida; 17/34 homozygotes exhibit exencephaly only, with 11/34 embryos displaying exencephaly and spina bifida

embryo
• between E10-14.5, most embryos display spina bifida with or without accompanying midbrain/hindbrain exencephaly; 11/34 embryos have both exencephaly and spina bifida, while 2/34 exhibit only spina bifida





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory