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Allele : Apaf1<tm1Mak> apoptotic peptidase activating factor 1; targeted mutation 1, Tak W Mak

Primary Identifier  MGI:1928692 Allele Type  Targeted
Attribute String  Null/knockout Gene  Apaf1
Inheritance Mode  Recessive Transmission  Germline
Strain of Origin  129P2/OlaHsd Is Recombinase  false
Is Wild Type  false
description 

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).

molecularNote  A 4 kb sequence containing an exon that encodes a portion of the nucleotide-binding P loop was replaced by a neomycin cassette.
  • mutations:
  • Insertion,
  • Intragenic deletion
  • synonyms:
  • apaf1-,
  • Apaf1<tm1Ari>,
  • apaf1-,
  • Apaf1<tm1Ari>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

30 Publication categories