TABLE 3.

Novel candidate genes for NMJ-related diseases in humans associated with the regulation of gene expression, as well as with the processes of proteostasis and autophagy. All models are constitutive unless otherwise stated. Lethal phenotypes can have complete or incomplete penetrance. cKO, constitutive KO; MN, motor neuron; PM, point-mutation.

Gene	Mouse model	Lethality a	References
Pre-synaptic terminal
Borcs5	cKO	PNL	de Pace et al. (2020)
Dnmt3a	Nervous system-specific KO (Nes-Cre)	PD	Nguyen et al. (2007)
Eef1a2	cKO by spontaneous PM (Wasted mice)	PD	Shultz et al. (1982), Chambers et al. (1998), Khalyfa et al. (2001), Newbery et al. (2005), Doig et al. (2013)
Nemf	cKO and chemically induced PM affecting protein function	AD: V or PD	Martin et al. (2020)
miR-218–1/2	cKO	NL	Amin et al. (2015)
Plaa	cKO and G23V PM recapitulating PLAA-associated neurodevelopmental disorder	AD: PD or PNL	Hall et al. (2017)
Psmf1/PI31	MN-specific KO (Mnx1-Cre) b	- (EL cKO)	Liu K et al. (2019), Minis et al. (2019)
Rab18	cKO	PNL	Carpanini et al. (2014)
Tmem106b	cKO	—	Lüningschrör et al. (2020)
Tmem184b	cKO	—	Bhattacharya et al. (2016)
Usp14	Hypomorphs by chemically induced PM (nmf375 mice) and by spontaneous PM (Ataxia mice)	SD: V, PNL or PD	D’Amato and Hicks (1965), Wilson et al. (2002), Chen et al. (2009), Chen et al. (2011), Bhattacharyya et al. (2012), Marshall et al. (2013), Vaden et al. (2015)
Post-synaptic terminal
Mbnl1 and Mbnl2	Mbnl1 −/− /Mbnl2 +/−	PD (EL double KO)	Lee et al. (2013)
miR-1/206/133	cKO	PD	Williams et al. (2009), Liu et al. (2012), Klockner et al. (2022)
Spin1	Skeletal muscle-specific KO (Myf5-Cre)	NL	Greschik et al. (2017)

^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.

^b See section 2.10. Other considerations for further information regarding this line.