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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Apaf1tm1Her
targeted mutation 1, Joachim Herz
MGI:1860245
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Apaf1tm1Her/Apaf1tm1Her involves: 129S6/SvEvTac * C57BL/6J MGI:2175698
ht2
Apaf1fog/Apaf1tm1Her involves: 129S6/SvEvTac * C3H/HeJ * C57BL/6 MGI:3783534


Genotype
MGI:2175698
hm1
Allelic
Composition
Apaf1tm1Her/Apaf1tm1Her
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Apaf1tm1Her mutation (1 available); any Apaf1 mutation (54 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 3 of 14 homozygotes surviving postnatally die at 8 weeks due to complications from hydrocephalus; the remainig homozygotes survive through 10 months of age
• most homozygotes die perinatally
• only 5% of homozygotes survive to adulthood (at least 10 months), in the absence of developmental defects in kidney, lung, heart, liver or brain (at the level of hippocampus, thalamus/basal ganglia, and cerebellum)

behavior/neurological
• at 10 weeks, surviving homozygotes are strikingly hyperactive, travelling longer distances and spending more time moving than sex-matched wild-type or heterozygous mice in the open-field test
• the distance traveled over an one-hour period is on average 10x greater than that covered by wild-type or heterozygous mice

craniofacial
• homozygotes commonly exhibit cranioschisis
• at E15.5, homozygotes display prominent palate defects
• at E13.5, homozygotes exhibit nasal septal defects

nervous system
• at E13.5, homozygotes exhibit ectopic regions of neurogenesis, with supernumerary developing neurons abnormally distributed in the subventricular zone
• mature neurons developing in ectopic regions fail to migrate to their proper position in the cortex
• homozygotes exhibit abnormal thickening of the neuroepithelium as early as E9.5
• at E9.5, homozygotes frequently fail to close the neural tube
• homozygotes commonly exhibit exencephaly
• at E12.5, the ventricles in the developing mutant brain are compressed, as a result of supernumerary cells in the periventricular zone
• by E13.5, the increased number of cells in the periventricular zone have invaded and obliterated the lateral ventricles, and the ganglionic eminence is almost undetectable
• by E13.5, the increased number of cells in the periventricular zone have invaded and obliterated the lateral ventricles, and the ganglionic eminence is almost undetectable

reproductive system
• at 2 to 10 months of age, the epidydimis of male homozygotes contains cellular debris and is devoid of viable, mature sperm; however, both Sertoli and Leydig cells are present, and normal secondary sexual features are preserved
• at 2 to 10 months, surviving male homozygotes exhibit massive degeneration of spermatogonia in the testis
• adult male homozygotes invariably exhibit patent seminiferous tubules
• adult female homozygotes are fertile and breed successfully, albeit at a reduced rate
• mutant ovaries show normal follicular development and function and lack atretic follicles
• adult male homozygotes are infertile

respiratory system
• at E13.5, homozygotes exhibit nasal septal defects

skeleton
• homozygotes commonly exhibit cranioschisis

neoplasm
N
• surviving homozygotes do NOT exhibit spontaneous soft tissue tumor formation

vision/eye
• at E15.5, homozygotes exhibit retinal thickening

endocrine/exocrine glands
• adult male homozygotes invariably exhibit patent seminiferous tubules

cellular
• at 2 to 10 months of age, the epidydimis of male homozygotes contains cellular debris and is devoid of viable, mature sperm; however, both Sertoli and Leydig cells are present, and normal secondary sexual features are preserved
• at 2 to 10 months, surviving male homozygotes exhibit massive degeneration of spermatogonia in the testis
• cell extracts prepared from mutant MEFs fail to activate procaspase-3 in the presence of dATP
• in response to staurosporine-induced apoptosis, mutant MEFs exhibit the expected morphological features of cell death, but fail to activate caspase-3 or -9
• at E13.5, homozygotes exhibit ectopic regions of neurogenesis, with supernumerary developing neurons abnormally distributed in the subventricular zone
• mature neurons developing in ectopic regions fail to migrate to their proper position in the cortex

hearing/vestibular/ear
• at E9.5, the neuroepithelium lining the otic vesicles is thickened and poorly organized

digestive/alimentary system
• at E15.5, homozygotes display prominent palate defects

embryo
• homozygotes exhibit abnormal thickening of the neuroepithelium as early as E9.5
• at E9.5, homozygotes frequently fail to close the neural tube

growth/size/body
• at E15.5, homozygotes display prominent palate defects
• at E13.5, homozygotes exhibit nasal septal defects




Genotype
MGI:3783534
ht2
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





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last database update
10/19/2021
MGI 6.17
The Jackson Laboratory