STOCK Apaf1^fog/J

Stock number: 002979
Product name: forebrain overgrowth
Research areas: Apoptosis Research, Cell Biology Research, Developmental Biology Research, Neurobiology Research, Reproductive Biology Research

Description

These mice carry a spontaneous mutation at the Apaf1 locus characterized by forebrain, lumbo-sacral, and facial defects.

Detailed description

Mice homozygous for the forebrain overgrowth recessive spontaneous mutation (fog) display forebrain, lumbo-sacral, and facial defects most likely due to excessive growth or cellular proliferation ultimately causing abnormalities in neural tube closure. The phenotypes manifest as head bumps and sacral spina bifida and individual mice can have either or both. Three unique features of the mutant are (1) the growth of telencephalon cells into the surrounding mesenchyme, (2) presence of an encephalocele through the midline cleft in some mutants, and (3) dissociation of the tail defect from the caudal neural tube defect. The fog mutation maps to mouse Chromosome 10 near D10Mit262 and D10Mit230.

Allele

Symbol: Apaf1^fog
Name: forebrain overgrowth
MGI accession ID: MGI:1888997
Generation method: Spontaneous
Attributes: Hypomorph
Marker symbol: Apaf1
Marker name: apoptotic peptidase activating factor 1
Chromosome: 10
Strain of origin: STOCK Ggt1^dwg/J
Molecular note: Defective 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.
General note: 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).