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MGI Accession ID: MGI:1289117
J Number: J:49840
Other Accession IDs:

• 9753320 (PubMed)

Title: Apaf1 (CED-4 homolog) regulates programmed cell death in mammalian development.
Authors: Cecconi F; Alvarez-Bolado G; Meyer BI; Roth KA; Gruss P
Journal: Cell
Volume: 94
Issue: 6
Date: 1998 Sep 18
Year: 1998
Pages: 727-37
Review Status: Peer Reviewed

Abstract:

The cytosolic protein APAF1, human homolog of C. elegans CED-4, participates in the CASPASE 9 (CASP9)-dependent activation of CASP3 in the general apoptotic pathway. We have generated by gene trap a null allele of the murine Apaf1. Homozygous mutants die at embryonic day 16.5. Their phenotype includes severe craniofacial malformations, brain overgrowth, persistence of the interdigital webs, and dramatic alterations of the lens and retina. Homozygous embryonic fibroblasts exhibit reduced response to various apoptotic stimuli. In situ immunodetection shows that the absence of Apaf1 protein prevents the activation of Casp3 in vivo. In agreement with the reported function of CED-4 in C. elegans, this phenotype can be correlated with a defect of apoptosis. Our findings suggest that Apaf1 is essential for Casp3 activation in embryonic brain and is a key regulator of developmental programmed cell death in mammals.

Additional Information:

• Genes and Markers (2)
• Mammalian Orthology
• Molecular Probes and Clones (3)
• Marker Mapping Data (1)
• Gene Expression Literature Content Records (2)
• Phenotypic Alleles (1)
• Sequences (2)