| Type | MGI:General | Description | heterozygotes display abnormal activation of autophagy EM of spinal cord neurons revealed large autophagosomes and autolysosomes and other features consistent with excessive or aberrant induction of autophagy; similar features are noted in brain and in isolated neurons LC3beta-positive neurons are detected in the spinal cord, indicating ongoing autophagy, unlike in wild-type controls heterozygous mutant MEFs show enlarged ER and aberrant autophagic structures, increased levels of autophagy markers, and decreased levels of the autophagy cargo protein p62; the autophagy phenotype can be rescued after expression of a dominant gain-of-acetylation mutant form of the ER-associated autophagy protein 9A (Atg9A) |
