TABLE 9.
Novel candidate genes for NMJ-related diseases in humans with unknown function. All models are constitutive unless otherwise stated. Lethal phenotypes can have complete or incomplete penetrance. cKO, constitutive KO.
| Gene | Mouse model | Lethality a | References |
|---|---|---|---|
| Pre-synaptic terminal | |||
| Slc16a3/Mct4 | cKO | — | Bisetto et al. (2019) |
| Snca | Constitutive overexpression of mouse WT or human PD-associated A53T mutant form | AD: V or PD | van der Putten et al. (2000), Rieker et al. (2011) |
| Post-synaptic terminal? | |||
| Kalrn | cKO or nervous system-specific KO (Nes-Cre) | SD: V or PD | Mandela et al. (2012) |
| Unknown | |||
| Gas7 | Truncated, lowly expressed and unstable hypomorph | - | Huang et al. (2012) |
| Skor2 | cKO | PNL | Wang et al. (2011) |
a
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.