| Primary Identifier | MGI:1888997 | Allele Type | Spontaneous |
| Attribute String | Hypomorph | Gene | Apaf1 |
| Inheritance Mode | Recessive | Strain of Origin | STOCK Ggt1<dwg>/J |
| Is Recombinase | false | Is Wild Type | false |
| description | Mutant mice are characterized by forebrain overgrowth and excessive cellular proliferation in the midline cleft. Human APAF1 is a candidate gene for Noonan Syndrome (OMIM 163950), a complex disease with some patients showing facial, cardiac, retinal, and limb abnormalities reminiscent of defective apoptosis (J:49840). |
| molecularNote | Defective mRNA processing appears to be the cause of the markedly reduced normal mRNA levels, protein levels, and activity in fog mutant mice. Complementation testing confirmed that the fog mutant mouse is an allele of Apaf1. |
