Table 1 List of the phenotypes associated with PAX3, PAX7 and MRF mutations
From: Master regulators of skeletal muscle lineage development and pluripotent stem cells differentiation
Mutated genes | Phenotype | Lethality | References |
|---|---|---|---|
Pax3 | Disorganized myotome Impaired trunk myogenesis No migratory muscles formed | Embryonic lethal (E15.5-E18.5 | (Bober et al., 1994) (Goulding et al., 1994) (Epstein et al., 1996) (Tremblay et al., 1998) (Relaix et al., 2003 |
Pax7 | Normal embryogenesis Reduced muscle masses Satellite cell loss after birth | Postnatal lethal (2 to 3Â weeks after birth | (Mansouri et al., 1996) (Seale et al., 2000) (Oustanina et al., 2004) (Kuang et al., 2006) (Relaix et al., 2006) |
Pax3:Pax7 | No trunk muscles No muscles of migratory origin | Embryonic lethal | (Relaix et al., 2005) |
Pax3:Myf5 | No trunk muscles No muscles of migratory origin | Embryonic lethal | (Tajbakhsh et al., 1997) |
Myf5 | Delayed myotome formation Delayed epaxial development Normal musculature | Postnatal lethal (abnormal rib formation) | (Braun et al., 1992) (Braun et al., 1994) (Kablar et al., 1997) (Tajbakhsh et al., 1998) |
Mrf4 | Upregulation of Myog expression Normal musculature | Postnatal lethal (abnormal rib formation) | (Zhang et al., 1995) (Patapoutian et al., 1995) |
Myod | Upregulation of Myf5 expression Delayed hypaxial development Normal musculature | Viable and fertile | (Rudnicki et al., 1992) (Kablar et al., 1997) |
Myog | No myoblast differentiation Severely reduced musculature | Postnatal lethal | (Hasty et al., 1993) (Nabeshima et al., 1993) |
Myod:Myf5:(Mrf4) | No embryonic myogenesis Lack of trunk and limb muscles | Postnatal lethal | (Rudnicki et al., 1993) |
Myf5:Myod | MRF4-dependent embryonic myogenesis only Defective fetal myogenesis Lack of trunk and limb muscles | Postnatal lethal | (Kassar-Duchossoy et al., 2004) |