TABLE 8.
Novel candidate genes for NMJ-related diseases in humans associated with the DGC complex. All models are constitutive unless otherwise stated. Lethal phenotypes can have complete or incomplete penetrance. cKO, constitutive KO.
| Gene | Mouse model | Lethality a | References |
|---|---|---|---|
| Post-synaptic terminal | |||
| Stnb1 and Stnb2 | Single Snta1, Sntb1, or Sntb2, double Snta1/Sntb2 or triple Snta1/Sntb1/Sntb2 cKOs | - | Adams et al. (2000), Adams et al. (2004), Kim et al. (2019) |
| Utrn | Single Utrn, double Utrn/Dmd or triple Utrn/Dmd/Dnta cKOs | AD: V or PD | Deconinck et al. (1997a), Grady et al. (1997a), Deconinck et al. (1997b), Grady et al. (1997b), Grady et al. (1999), Grady et al. (2000) |
Key: AD, allele or model-dependent; EL, embryonic lethality; NL, neonatal lethality; PD, premature death; PNL, perinatal lethality; PL, postnatal lethality; SD, strain-dependent; V, viability.