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Apaf1fog
Spontaneous Allele Detail
Nomenclature
Symbol: Apaf1fog
Name: apoptotic peptidase activating factor 1; forebrain overgrowth
MGI ID: MGI:1888997
Synonyms: Apaf-1fog, fog
Gene: Apaf1  Location: Chr10:90825173-90918632 bp, - strand  Genetic Position: Chr10, 45.47 cM, cytoband C3-D1
Mutation
origin
Strain of Origin:  STOCK Ggt1dwg/J
Mutation
description
Allele Type:    Spontaneous (Hypomorph)
Mutation:    Undefined
 
Mutation detailsDefective 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 3 assay results
In Structures Affected by this Mutation: 18 anatomical structures
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:  54 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory