Mice that are heterozygous for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Most homozygous mutant mice have a perinatal lethal phenotype with severe neuropathology (exencephaly or cranioschesis). Five percent of homozygous null mice survive to weaning age with hydrocephalus, but do not survive much longer. Another five percent survive to adulthood and exhibit hyperactivity. Surviving male homozygotes are infertile. Homozygous female mice are fertile and have litters, but at a reduced frequency. Homozygous male mice are infertile due to massive degeneration of spermatogonia and reduced sperm. At age E9.5 in development neural tube closure defects and thickened neuropithelium appear. No targeted gene product (protein) was immunodetected in homozygous mutant mice. Fibroblast extracts from mutant adult mice do not activate caspase-3. This mutant mouse strain represents a model that may be useful in studies of the role of apoptotic cell death in disease processes.

Most <i>Apaf1</i> knock-out mice exhibit a perinatal lethal phenotype with severe neuropathology. Surviving male mutants have massive degeneration of spermatogonia and reduced sperm.

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