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Apaf1tm1Mak
Targeted Allele Detail
Nomenclature
Symbol: Apaf1tm1Mak
Name: apoptotic peptidase activating factor 1; targeted mutation 1, Tak W Mak
MGI ID: MGI:1928692
Synonyms: apaf1-, Apaf1tm1Ari
Gene: Apaf1  Location: Chr10:90989311-91082770 bp, - strand  Genetic Position: Chr10, 45.47 cM, cytoband C3-D1
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 detailsA 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
Phenotypes
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Apaf1 Mutation:  41 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:  24 reference(s)

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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory