Phenotypes Associated with This Genotype

Genotype
MGI:3783543

• Allelic Composition: Apaf1^fog/Apaf1^tm1Mak
• Genetic Background: involves: 129S6/SvEvTac * C3H/HeJ * CD-1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

decreased neuron apoptosis ( J:131954 )

• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals

abnormal neuron morphology ( J:131954 )

• neurons display characteristics of type 2 (autophagic) programmed cell death, in contrast to type 1 (apoptotic) PCD seen in wild-type

motor neuron degeneration ( J:131954 )

• motoneurons have normal nuclei and atypical cytoplasm, with structures having characteristics of lysosomes; cytoplasmic organelles appear aggregated in area with many lysosomes and autophagosomes

• mitochondria show loss of cristae and swollen rounded appearance; rough endoplasmic reticulum is dilated and Golgi is hypertrophic

• as degeneration proceeds, nucleus and cytoplasm become more condensed; at late stages, nucleus is condensed but remains intact

cellular

decreased neuron apoptosis ( J:131954 )

• dying motoneurons are rarely observed at E14 and E18, unlike in wild-type animals