Table 2.
List of EDMD and EDMD-like myopathies mouse models.
| Model | Features | References | |
|---|---|---|---|
| Lamin A/C | |||
| KO | Lmna−/− (LmnaΔ8−11) | EDMD and DCM-CD | Sullivan et al., 1999; Jahn et al., 2012 |
| KO | LmnaGT−/− | Impaired post-natal cardiomyocyte hypertrophy, skeletal muscle hypotrophy and metabolic defects | Kubben et al., 2011 |
| cKO | LmnaΔ/Δ | Similar to LmnaGT−/− mice with several growth retardation and postnatal lethality at P16-18 days | Kim and Zheng, 2013 |
| cKO | Lmna-Zp3 | Reduced transcriptional activation of muscle related genes in isolated muscle progenitor cells. | Solovei et al., 2013 |
| KI | LmnaH222P/H222P | AD-EDMD and DCM-CD | Arimura et al., 2005 |
| KI | LmnaN195K/N195K | DCM-CD | Mounkes et al., 2005 |
| Tg | LmnaM371K/M371K | EDMD and DCM | Wang et al., 2006 |
| KI | LmnaΔK32/ΔK32 | L-CMD, defective skeletal and cardiac muscles maturation and metabolic defects | Bertrand et al., 2012 |
| KI | LmnaΔK32/+ | DCM | Cattin et al., 2013 |
| KI | LmnaPLAO | No defects | Coffinier et al., 2010 |
| KI | LmnaLAO | No defects | Coffinier et al., 2010 |
| KI | LmnaLCO | No defects | Fong et al., 2006 |
| Emerin | |||
| KO | Emd −/− | Muscle regeneration defects | Melcon et al., 2006 |
| KO | Emd −/− | Motor coordination abnormalities, atrio-ventricular conduction defects | Ozawa et al., 2006 |
| Nesprins | |||
| KI | Nesprin 1ΔKASH | EDMD and DCM-CD | Puckelwartz et al., 2009, 2010 |
| KI | Nesprin 1rKASH | Increase in centralized myonuclei and displacement of synaptic myonuclei | Zhang et al., 2007 |
| KO | Nesprin-1−/− | Increase in centralized myonuclei and myonuclei clustering | Zhang et al., 2010 |
| KI | Nesprin-2rKASH | No defects | Zhang et al., 2007 |
| Tg | MCK-KASHNesprin−2 | Displacement of synaptic myonuclei. | Zhang et al., 2007 |
| dKO | Nesprin-1−/−/Nesprin-2−/− | Neonatal lethality with respiratory defects | Zhang et al., 2007 |
| cdKO | Nesprin 1f/f/Nesprin 2−/−/Nkx2.5Cre | Nuclear elongation and cardiomyopathy with fibrosis and apoptosis | Banerjee et al., 2014 |
| KO | Nesprin 1ΔCH | No striated muscle defects | Stroud et al., 2017 |
| KO | Nesprin 1α2−/− | Centralization and clustering of myonuclei and Kinesin-1 displacement from the NE | Stroud et al., 2017 |
| SUN | |||
| KO | Sun1−/− | Impairment of telomere attachment to the nuclear envelope, persistent double-strand breaks, inefficient homologous pairing and synapsis formation in meiosis and reproductively infertile | Ding et al., 2007 |
| KO | Sun2−/− | No defects | Lei et al., 2009 |
| dKO | Sun1−/−/Sun2−/− | Neonatal lethality and disruption organization of non-synaptic nuclei | Lei et al., 2009 |
| LUMA | |||
| KO | Luma−/− | No defects | Stroud et al., 2018 |
| KI | LumaS358L/S358L | No defects | Stroud et al., 2018 |
| FHL1 | |||
| KO | Fhl1−/− | Blunted response of heart to pressure overload and other hypertrophic stimuli and decreased MAPK activation | Sheikh et al., 2008 |
| Tg | Tg-Fhl1 | Increased muscle fiber size, myoblast fusion and NFATc1 activation | Cowling et al., 2008 |
| KO | Fhl1-null | Early muscle fiber differentiation and maturation defects. Myofibrillar and intermyofibrillar disorganization, impaired force production and muscle fatigue | Domenighetti et al., 2014 |
cKO, conditional knock-out; cdKO, conditional double knock-out; KI, knock-in; KO, knock-out; dKO, double knock-out; Tg, Transgenic.