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. 2023 Aug 4;11:1216726. doi: 10.3389/fcell.2023.1216726

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)
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.