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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Apaf1
apoptotic peptidase activating factor 1
MGI:1306796
115 phenotypes from 6 alleles in 12 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Apaf1fog/Apaf1fog
involves: C3H/HeJ 		abnormal cerebral hemisphere morphology J:41353
abnormal cranial flexure morphology J:41353
abnormal cranium morphology J:41353
abnormal embryonic neuroepithelium morphology J:41353
abnormal forebrain morphology J:41353
abnormal forehead shape J:41353
abnormal lateral ventricle morphology J:41353
abnormal neurocranium morphology J:41353
abnormal telencephalon morphology J:41353
curly tail J:41353
decreased survivor rate J:41353
delayed neural tube closure J:41353
exencephaly J:41353, J:131954
intracerebral hemorrhage J:41353
kinked tail J:41353
midline facial cleft J:41353
normal nervous system phenotype J:131954
perinatal lethality, incomplete penetrance J:41353
postnatal lethality, incomplete penetrance J:41353
reduced female fertility J:41353
reduced male fertility J:41353
short snout J:41353
spina bifida J:131954
spina bifida occulta J:41353
Apaf1fog/Apaf1Gt(IRESBetageo)XIX18Pgr
involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * C3H/HeJ * NMRI 		abnormal neuron morphology J:131954
decreased neuron apoptosis J:131954
motor neuron degeneration J:131954
Apaf1fog/Apaf1tm1Her
involves: 129S6/SvEvTac * C3H/HeJ * C57BL/6b 		abnormal neural tube morphology J:71086
cranioschisis J:71086
exencephaly J:71086
Apaf1fog/Apaf1tm1Mak
involves: 129S6/SvEvTac * C3H/HeJ * CD-1 		abnormal neuron morphology J:131954
decreased neuron apoptosis J:131954
motor neuron degeneration J:131954
Apaf1fog/Apaf1ytj
involves: C3H/HeJ * C57BL/6J 		abnormal craniofacial morphology J:201947
abnormal forebrain development J:201947
abnormal fourth ventricle morphology J:201947
abnormal vertebrae morphology J:201947
broad face J:201947
encephalomeningocele J:201947
exencephaly J:201947
facial cleft J:201947
kinked tail J:201947
spina bifida J:201947
Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
involves: 129/Sv * 129X1/SvJ 		abnormal apoptosis J:103480
Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
involves: 129S1/Sv * 129X1/SvJ 		decreased neuron apoptosis J:112874
increased neuron apoptosis J:112874
Apaf1Gt(IRESBetageo)XIX18Pgr/Apaf1Gt(IRESBetageo)XIX18Pgr
involves: 129S1/Sv * 129X1/SvJ * NMRI 		abnormal brain development J:49840
abnormal brain morphology J:49840
abnormal cortical marginal zone morphology J:49840
abnormal craniofacial bone morphology J:49840
abnormal embryonic neuroepithelial layer differentiation J:49840
abnormal embryonic tissue morphology J:49840
abnormal folding of telencephalic vesicles J:49840
abnormal lens polarity J:49840
abnormal neuron morphology J:131954
abnormal neuron physiology J:131954
absent ethmoid bone J:49840
absent neurocranium J:49840
absent vomer bone J:49840
choroid plexus hyperplasia J:49840
decreased fibroblast apoptosis J:49840
diencephalon hyperplasia J:49840
exencephaly J:49840, J:131954
hydrocephaly J:49840
hypothalamus hyperplasia J:49840
impaired ossification of basisphenoid bone J:49840
interdigital webbing J:49840
lethality throughout fetal growth and development, complete penetrance J:49840
midbrain hyperplasia J:49840
midline facial cleft J:49840
normal nervous system phenotype J:49840
persistence of hyaloid vascular system J:49840
persistence of medial edge epithelium during palatal shelf fusion J:49840
retina fold J:49840
retina hyperplasia J:49840
small embryonic telencephalon J:49840
small lens J:49840
Apaf1tm1Her/Apaf1tm1Her
involves: 129S6/SvEvTac * C57BL/6J 		abnormal brain ventricle morphology J:60409
abnormal embryonic/fetal subventricular zone morphology J:60409
abnormal fibroblast apoptosis J:60409
abnormal lateral ventricle morphology J:60409
abnormal nasal septum morphology J:60409
abnormal neuron differentiation J:60409
abnormal otic vesicle development J:60409
abnormal palate morphology J:60409
abnormal retina neuronal layer morphology J:60409
abnormal seminiferous tubule morphology J:60409
abnormal spermatogonia morphology J:60409
abnormal viscerocranium morphology J:60409
azoospermia J:60409
cranioschisis J:60409
decreased neuron apoptosis J:60409
exencephaly J:60409
hydrocephaly J:60409
hyperactivity J:60409
impaired neuronal migration J:60409
increased embryonic neuroepithelium thickness J:60409
increased locomotor activity J:60409
male infertility J:60409
normal neoplasm J:60409
open neural tube J:60409
perinatal lethality, incomplete penetrance J:60409
premature death J:60409
reduced female fertility J:60409
Apaf1tm1Hez/Apaf1tm1Hez
involves: 129 * C57BL/6 * C57BL/6J 		no abnormal phenotype detected J:179045
Apaf1tm1Mak/Apaf1tm1Mak
either: (involves: 129P2/OlaHsd * C57BL/6) or (involves: 129P2/OlaHsd * CD-1) 		abnormal craniofacial morphology J:49841
abnormal digit morphology J:49841
abnormal facial morphology J:49841
abnormal forebrain morphology J:49841
abnormal frontal bone morphology J:49841
abnormal head shape J:49841
abnormal hindbrain morphology J:49841
abnormal hypothalamus morphology J:49841
abnormal respiratory electron transport chain J:49841
abnormal thalamus morphology J:49841
abnormal third ventricle morphology J:49841
choroid plexus hyperplasia J:49841
decreased apoptosis J:49841
decreased sensitivity to induced cell death J:49841
exencephaly J:49841
flat head J:49841
normal hearing/vestibular/ear phenotype J:98518
hydrocephaly J:49841
hypothalamus hyperplasia J:49841
normal immune system phenotype J:49841
increased cell proliferation J:49841
interdigital webbing J:49841
lethality throughout fetal growth and development, incomplete penetrance J:49841
microcephaly J:49841
perinatal lethality, incomplete penetrance J:49841
postnatal lethality, complete penetrance J:49841
thalamus hyperplasia J:49841
thickened cerebral cortex J:49841
Apaf1tm1Mak/Apaf1tm1Mak
involves: 129P2/OlaHsd * CD-1 		abnormal neuron morphology J:131954
abnormal neuron physiology J:131954
exencephaly J:131954
normal nervous system phenotype J:131954
Apaf1ytj/Apaf1ytj
involves: C3H/HeJ * C57BL/6J 		abnormal craniofacial morphology J:201947
abnormal forebrain development J:201947
abnormal frontal bone morphology J:201947
abnormal maxilla morphology J:201947
abnormal presphenoid bone morphology J:201947
absent interparietal bone J:201947
absent parietal bone J:201947
absent presphenoid bone J:201947
absent supraoccipital bone J:201947
broad frontonasal prominence J:201947
exencephaly J:201947
failure of eyelid fusion J:201947
interdigital webbing J:201947
midline facial cleft J:201947
normal nervous system phenotype J:201947
perinatal lethality, complete penetrance J:201947
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory