Table 1.
In vivo genetic studies of autophagy-related genes
| Autophagic stage | Target | Genetic modification | Phenotypes | Reference |
|---|---|---|---|---|
| Initiation | ULK1 | KO | Viable without overt development defects; delayed mitochondrial clearance in reticulocytes | Kundu et al., 2008 |
| ULK2 | KO | Normal development and fertile | Lee and Tournier, 2011 | |
| ATG13 | KO | Embryonic lethality with growth retardation and myocardial growth defects (E17.5) | Kaizuka and Mizushima, 2016 | |
| ATG101 | N/A | |||
| FIP200 | KO | Embryonic lethality with defective heart and liver development (E14.5) | Gan et al., 2006 | |
| Nucleation | BECLIN 1 | KO | Embryonic lethality (E8.5) High incidence of spontaneous tumors as in heterozygote |
Yue et al., 2003 |
| ATG14 | KO | Neonatal lethality | https://www.mousephenotype.org/ | |
| VPS15 | KO | Embryonic lethality (E7.5) | Nemazanyy et al., 2013 | |
| VPS34 | KO | Embryonic lethality with abnormal embryogenesis (E7.5-E8.5) | Zhou et al., 2011 | |
| UVRAG | KO | Embryonic lethality (E7.5) | Afzal et al., 2015 | |
| BIF-1 | KO | Normal development and high incidence of spontaneous tumorigenesis | Takahashi et al., 2007 | |
| AMBRA1 | KO | Embryonic lethality with neural tube defect (E18.5*) | Fimia et al., 2007 | |
| Expansion | LC3B | KO | Normal development and fertile | Cann et al., 2008 |
| ATG3 | KO | Neonatal lethality (1 d) | Sou et al., 2008 | |
| ATG4A | KO | Close-to-normal development | https://www.mousephenotype.org/ | |
| ATG4B | KO | Close-to-normal development | Marino et al., 2010 | |
| ATG4C | KO | Close-to-normal development | https://www.mousephenotype.org/ | |
| ATG5 | KO | Neonatal lethality (1 d) | Kuma et al., 2004 | |
| ATG7 | KO | Neonatal lethality (1 d) | Komatsu et al., 2005 | |
| ATG10 | N/A | |||
| ATG12 | KO | Neonatal lethality (1 d) | Malhotra et al., 2015 | |
| ATG16L1 | KO | Neonatal lethality (1 d) | Saitoh et al., 2008 | |
| Fusion | STX17 | N/A | ||
| SNAP29 | KO | Neonatal lethality with ichthyotic phenotype (1 d) | Schiller et al., 2016 | |
| VAMP8 | KO | Partial lethality and growth retardation with defect in secretion of the pancreas | Wang et al., 2004 | |
| RAB7 | KO | Embryonic lethality (E7-8) | Kawamura et al., 2012 | |
| LAMP2 | KO | Increased mortality between (20-40 d) with cardio-myopathy | Tanaka et al., 2000 | |
| EPG5 | KO | Growth retardation and reduced survival with selective neuronal vulnerability to degeneration | Zhao et al., 2013 |
N/A, not available; *, available at https://www.mousephenotype.org/.