TABLE 7.

Novel candidate genes for NMJ-related diseases in humans associated with adhesion. All models are constitutive unless otherwise stated. Lethal phenotypes can have complete or incomplete penetrance. cKO, constitutive KO; MN, motor neuron; SMA, spinal muscle atrophy.

Gene	Mouse model	Lethality a	References
Synaptic cleft
Aplp2 and App	Skeletal muscle- (Ckmm-Cre), nervous system- (Nes-Cre), neuron-specific (ChAT-Cre) or constitutive App deletion in a Aplp2 cKO background; humanized mutated and truncated App transgene in a Aplp2 cKO background; constitutive deletion of the Lrp4 transmembrane domain in an App cKO background	AD: V, PNL, PL or PD	Wang et al. (2005), Wang et al. (2007), Wang et al. (2009), Li et al. (2010), Choi et al. (2013)
Fat1	Skeletal muscle-specific (Pax3-Cre) hypomorph; skeletal muscle- (Pax3-Cre), MN- (Olig2-Cre), mesenchymal- (except cranial; Prx1-Cre), craniofacial mesenchymal-specific (Wnt1-Cre) or constitutive mutant lacking the transmembrane domain	AD: V, NL or PD	Caruso et al. (2013), Helmbacher (2018)
Itgb1	Neural crest- (PLAT-Cre), nervous system- (Nes-Cre) or skeletal muscle-specific (ACTA1-Cre) KOs	PD	Pietri et al. (2004), Schwander et al. (2004)

^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.