Apaf1^ytj
Chemically induced Allele Detail

Summary

• Symbol: Apaf1^ytj
• Name: apoptotic peptidase activating factor 1; yautja
• MGI ID: MGI:5490757
• Gene: Apaf1 Location: Chr10:90825173-90918632 bp, - strand Genetic Position: Chr10, 45.47 cM, cytoband C3-D1
• Alliance: Apaf1^ytj page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T to C transition in exon 8 that alters an evolutionarily conserved leucine to a proline at amino acid 375 (L375P), in the winged-helix domain. The mutant protein is expressed and stable, but is nonfunctional in caspase cleavage assays. (J:201947)
• Inheritance: Recessive

Expression

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

References

• Original: J:201947 Long AB, et al., Apaf1 apoptotic function critically limits Sonic hedgehog signaling during craniofacial development. Cell Death Differ. 2013 Nov;20(11):1510-20
• All: 1 reference(s)