TABLE 6.

Novel candidate genes for NMJ-related diseases in humans associated with endocytosis, synaptic vesicle formation and neurotransmitter release. All models are constitutive unless otherwise stated. Lethal phenotypes can have complete or incomplete penetrance. cKO, constitutive KO; SMA, spinal muscle atrophy.

Gene	Mouse model	Lethality a	References
Pre-synaptic terminal
Dnajc5/Csp-⍺	cKO	PD	Fernández-Chacón et al. (2004), Chandra et al. (2005), Ruiz et al. (2008), Rozas et al. (2012), Sharma et al. (2012), Zhang et al. (2012)
Madd/Rab3 GEP	cKO	SD: V or NL	Tanaka et al. (2001)
Nbea	cKO by random integration that in addition disturbs GH secretion causing dwarfism; cKO by gene trap	NL	Su et al. (2004), Medrihan et al. (2009), Nuytens et al. (2014)
Pls3	Overexpression in SMA models (Smn1−/−/Tg (SMN2))	PD	Ackermann et al. (2013), McGovern et al. (2015), Hosseinibarkooie et al. (2016)
Rims1 and Rims2	cKO	NL	Schoch et al. (2002), Schoch et al. (2006)
Stxbp5l/Tom2	cKO	SD: V or PL	Geerts et al. (2015)

^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.