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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Apaf1fog
forebrain overgrowth
MGI:1888997
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Apaf1fog/Apaf1fog involves: C3H/HeJ MGI:3783532
ht2
Apaf1fog/Apaf1Gt(IRESBetageo)XIX18Pgr involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C3H/HeJ * NMRI MGI:3783544
ht3
Apaf1fog/Apaf1tm1Her involves: 129S6/SvEvTac * C3H/HeJ * C57BL/6 MGI:3783534
ht4
Apaf1fog/Apaf1tm1Mak involves: 129S6/SvEvTac * C3H/HeJ * CD-1 MGI:3783543
ht5
Apaf1fog/Apaf1ytj involves: C3H/HeJ * C57BL/6J MGI:5516424


Genotype
MGI:3783532
hm1
Allelic
Composition
Apaf1fog/Apaf1fog
Genetic
Background
involves: C3H/HeJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1fog mutation (1 available); any Apaf1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some mice, including animals with combinations of most or all defects do survive to adulthood and reproduce
• severity of defects results in death at or shortly after birth
• severity of defects results in death shortly after birth; preweaning lethality is 6%

cardiovascular system
• in some foci of proliferation, rupture of blood vessels occurs, causing hemorrhages into parenchyma of cerebral hemispheres
• by E17.5, massive hemorrhage in brain and subectodermal tissue of the frontal bulges can be seen through the skin

craniofacial
• in mutant embryos with facial clefts observed at E16.5-17.5, skulls are flat due to absence of cephalic flexure in rostrally extended brain
• show normal sutures, but one to three round holes up to 3 mm in diameter) mark sites where ossification had been impaired by enlarged forebrain
• affected animals exhibit usually bilateral bumps over the forehead; bumps may be larger on one side or give the appearance of a wholly enlarged forehead
• in adult mice, bumps usually contain loose connective tissue
• affected animals may show shorter snouts
• a few embryos exhibit facial clefting at E12 and later; mutant embryos observed at E16.5-17.5 display herniation of entire forebrain through middle of face

limbs/digits/tail
• around 50% of mutants may display curly or looped tails, shaped like a corkscrew; may be present singly (20%) or in combination with exencephaly and/or spina bifida (40%)
• tails are malformed in about half of the mutants; tails may show distal kinks

nervous system
N
• in adult animals, neuronal counts of spinal and cranial motoneurons, spinal interneurons, dorsal root ganglion sensory neurons, and superior cervical ganglion sympathetic neurons are not different from wild-type
• in some foci of proliferation, rupture of blood vessels occurs, causing hemorrhages into parenchyma of cerebral hemispheres
• by E17.5, massive hemorrhage in brain and subectodermal tissue of the frontal bulges can be seen through the skin
• some cell death is observed in lesions of telencephalic walls at E10.5
• cells are less densely packed and protrude slightly into lumen of lateral ventricle
• at E10.5, cranial neuropore is still open whereas it is closed in wild-type embryos; closure in essentially all mutants is observed at E12.5
• animals also display mild-to-moderate lumbar spina bifida
• spina bifida is observed in some pups, sometimes as an opening in the lumbar region, or healed but still visible as a small scar; may be present singly (40%) or in combination with exencephaly and/or tail defects (20%)
• persistent caudal neuropore occurs separately from tail deflections in 60% of affected animals
• lumbo-sacral neural tube defects observed in about half the animals are secondarily closed during late gestation and remain visible as small wound on dorsal aspect of sacral region in newborns
• absence of cephalic flexure in rostrally extended brain
• mutants show exencephaly or herniation of the forebrain; may be present singly or in combination with tail defects and/or spina bifida (J:41353)
• forebrain exencephaly is observed, similar to other Apaf1-null mutants (J:131954)
• in adult homozygotes, exencephalic forebrain is covered by skin and hair an appears as forehead bumps (J:131954)
• at E13.5-14.5, mass of forebrain tissue has increased due to hemorrhage and multifocal proliferation such that cerebral hemispheres are starting to bulge from surface of head; by E17.5, forebrain tissue mass compressed overlying subepidermal mesenchyme
• in embryos (E17.5), herniation of forebrain tissue may be observed; forebrain is enlarged
• at E10.5, telencephalic walls are folded in embryos with open cranial neuropore
• lesions of telencephalic walls are detected at E10.5
• cells of walls extrude outwardly, compressing connective tissue of meninges and subepidermal mesenchyme which will form calvaria; such extrusions are observed extending into mesenchyme around basal forebrain and sometimes penetrate wall of the pharynx
• lumen of ventricles are narrower than wild-type at E12.5; ventricles often contain blood
• at E10.5, embryos with open cranial neuropore display collapsed lateral ventricles
• cells of telencephalic walls are less densely packed than in wild-type and protrude slightly into lumen of lateral ventricle at E10.5; at E12.5, protrusions are more conspicuous with more cells and vascularization
• at E13.5 and E14.5, cerebral hemispheres show many folds and intraparenchymal proliferation foci
• mesenchymal and epidermal cover of hemispheres is extremely thin on top

reproductive system
• some adult females breed poorly or do not reproduce
• some adult males breed poorly or do not reproduce

skeleton
• in mutant embryos with facial clefts observed at E16.5-17.5, skulls are flat due to absence of cephalic flexure in rostrally extended brain
• show normal sutures, but one to three round holes up to 3 mm in diameter) mark sites where ossification had been impaired by enlarged forebrain
• spina bifida is observed in some pups, sometimes as an opening in the lumbar region, or healed but still visible as a small scar; may be present singly (40%) or in combination with exencephaly and/or tail defects (20%)
• persistent caudal neuropore occurs separately from tail deflections in 60% of affected animals
• lumbo-sacral neural tube defects observed in about half the animals are secondarily closed during late gestation and remain visible as small wound on dorsal aspect of sacral region in newborns

embryo
• some cell death is observed in lesions of telencephalic walls at E10.5
• cells are less densely packed and protrude slightly into lumen of lateral ventricle
• at E10.5, cranial neuropore is still open whereas it is closed in wild-type embryos; closure in essentially all mutants is observed at E12.5
• animals also display mild-to-moderate lumbar spina bifida
• spina bifida is observed in some pups, sometimes as an opening in the lumbar region, or healed but still visible as a small scar; may be present singly (40%) or in combination with exencephaly and/or tail defects (20%)
• persistent caudal neuropore occurs separately from tail deflections in 60% of affected animals
• lumbo-sacral neural tube defects observed in about half the animals are secondarily closed during late gestation and remain visible as small wound on dorsal aspect of sacral region in newborns

growth/size/body
• affected animals exhibit usually bilateral bumps over the forehead; bumps may be larger on one side or give the appearance of a wholly enlarged forehead
• in adult mice, bumps usually contain loose connective tissue
• affected animals may show shorter snouts
• a few embryos exhibit facial clefting at E12 and later; mutant embryos observed at E16.5-17.5 display herniation of entire forebrain through middle of face




Genotype
MGI:3783544
ht2
Allelic
Composition
Apaf1fog/Apaf1Gt(IRESBetageo)XIX18Pgr
Genetic
Background
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C3H/HeJ * NMRI
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1fog mutation (1 available); any Apaf1 mutation (54 available)
Apaf1Gt(IRESBetageo)XIX18Pgr mutation (1 available); any Apaf1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals
• neurons display characteristics of type 2 (autophagic) programmed cell death, in contrast to type 1 (apoptotic) PCD seen in wild-type
• motoneurons have normal nuclei and atypical cytoplasm, with structures having characteristics of lysosomes; cytoplasmic organelles appear aggregated in area with many lysosomes and autophagosomes
• mitochondria show loss of cristae and swollen rounded appearance; rough endoplasmic reticulum is dilated and Golgi is hypertrophic
• as degeneration proceeds, nucleus and cytoplasm become more condensed; at late stages, nucleus is condensed but remains intact

cellular
• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals




Genotype
MGI:3783534
ht3
Allelic
Composition
Apaf1fog/Apaf1tm1Her
Genetic
Background
involves: 129S6/SvEvTac * C3H/HeJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1fog mutation (1 available); any Apaf1 mutation (54 available)
Apaf1tm1Her mutation (1 available); any Apaf1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• phenotype observed at E16.5 can include lumbosacral defects along with either exencephaly or cranioschisis
• phenotype observed at E16.5 can include exencephaly

craniofacial
• phenotype observed at E16.5 can include cranioschisis

skeleton
• phenotype observed at E16.5 can include cranioschisis

embryo
• phenotype observed at E16.5 can include lumbosacral defects along with either exencephaly or cranioschisis




Genotype
MGI:3783543
ht4
Allelic
Composition
Apaf1fog/Apaf1tm1Mak
Genetic
Background
involves: 129S6/SvEvTac * C3H/HeJ * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1fog mutation (1 available); any Apaf1 mutation (54 available)
Apaf1tm1Mak mutation (1 available); any Apaf1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals
• neurons display characteristics of type 2 (autophagic) programmed cell death, in contrast to type 1 (apoptotic) PCD seen in wild-type
• motoneurons have normal nuclei and atypical cytoplasm, with structures having characteristics of lysosomes; cytoplasmic organelles appear aggregated in area with many lysosomes and autophagosomes
• mitochondria show loss of cristae and swollen rounded appearance; rough endoplasmic reticulum is dilated and Golgi is hypertrophic
• as degeneration proceeds, nucleus and cytoplasm become more condensed; at late stages, nucleus is condensed but remains intact

cellular
• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals




Genotype
MGI:5516424
ht5
Allelic
Composition
Apaf1fog/Apaf1ytj
Genetic
Background
involves: C3H/HeJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1fog mutation (1 available); any Apaf1 mutation (54 available)
Apaf1ytj mutation (1 available); any Apaf1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• with or without a kinked tail and wide or split face
• compressed forebrain ventricles

craniofacial
• wide face in some mice
• split face in some mice

limbs/digits/tail
• in some mice

skeleton
• lumbosacral defects

embryo
• with or without a kinked tail and wide or split face

growth/size/body
• wide face in some mice
• split face in some mice





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last database update
01/12/2022
MGI 6.17
The Jackson Laboratory