Apaf1^fog
Spontaneous Allele Detail

Summary

• Symbol: Apaf1^fog
• Name: apoptotic peptidase activating factor 1; forebrain overgrowth
• MGI ID: MGI:1888997
• Synonyms: Apaf-1^fog, fog
• Gene: Apaf1 Location: Chr10:90825173-90918632 bp, - strand Genetic Position: Chr10, 45.47 cM, cytoband C3-D1
• Alliance: Apaf1^fog page

Mutation origin

• Strain of Origin: STOCK Ggt1^dwg/J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Undefined
• Mutation details: 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. (J:71086)
• Inheritance: Recessive

Expression

In Mice Carrying this Mutation:	3 assay results
In Structures Affected by this Mutation:	14 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Apaf1 Mutation: 78 strains or lines available

Notes

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).

References

• Original: J:41353 Harris BS, et al., Forebrain overgrowth (fog): a new mutation in the mouse affecting neural tube development. Teratology. 1997 Apr;55(4):231-40
• All: 8 reference(s)