Apaf1^tm1Mak
Targeted Allele Detail

Summary

• Symbol: Apaf1^tm1Mak
• Name: apoptotic peptidase activating factor 1; targeted mutation 1, Tak W Mak
• MGI ID: MGI:1928692
• Synonyms: apaf1-, Apaf1^tm1Ari
• Gene: Apaf1 Location: Chr10:90825173-90918632 bp, - strand Genetic Position: Chr10, 45.47 cM, cytoband C3-D1
• Alliance: Apaf1^tm1Mak page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:49841
• Parent Cell Line: E14K (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 4 kb sequence containing an exon that encodes a portion of the nucleotide-binding P loop was replaced by a neomycin cassette. (J:49841)
• 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

Notes

Null mutations are lethal, arresting development with phenotypes ascribed to the lack of proper apoptosis, such that too many cells are present, yielding exencephaly and webbed paws. Fas-induced apoptosis, however, appears unaffected in thymocytes, suggesting Apaf1 works by a different mechanism (J:49841). Apaf1 is essential for the activation of other caspase genes. Some phenotypes in Apaf1 mutants overlap with those in mice carrying mutations in Casp3 and Casp9 (J:49840, J:49841).

References

• Original: J:49841 Yoshida H, et al., Apaf1 is required for mitochondrial pathways of apoptosis and brain development. Cell. 1998 Sep 18;94(6):739-50
• All: 27 reference(s)