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. 2020 Jul 3;11:761. doi: 10.3389/fphys.2020.00761

TABLE 1.

Mouse models of cardiolaminopathy.

Mouse model Phenotype Molecular mechanism References
Lmna–/– Muscular dystrophy; DCM; signs of axonal neuropathy; reduction of adipose tissue; death by 8 weeks of age Structural and Mechano-transduction hypotheses based on abnormal desmin network and defective force transmission Sullivan et al., 1999; De Sandre-Giovannoli et al., 2002; Nikolova et al., 2004
Lmna+/– (Haploinsufficiency) Phenotypes are less severe than in Lmna–/–Conduction system defects; DCM; apoptosis of the conduction tissue; death by 8 months of age Structural and Mechano-transduction hypotheses:
  • –

    Abnormal desmin network and defective force transmission;

  • –

    Mechanical-stress induced apoptosis

 Wolf et al., 2008; Chandar et al., 2010; Cupesi et al., 2010
Gene transcription hypothesis:
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    Reduced expression of Egr-1 gene due to a direct interaction between Lamin A/C and c-Fos in response to pressure overload

 Cupesi et al., 2010
LmnaN195K knock-in DCM-CD Structural and Signaling hypotheses:
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    Misexpression/mislocalization of Cx40 and Cx43

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    Abnormal desmin organization

 Mounkes et al., 2005
LmnaH222P Muscular dystrophy and DCM-CD Structural and signaling hypotheses:
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    Alteration of ERK/MAPK pathway

 Arimura et al., 2005; Muchir et al., 2007; Choi et al., 2012; Muchir et al., 2012; Chatzifrangkeskou et al., 2016; Chatzifrangkeskou et al., 2018; Antoku et al., 2019
  • –

    Link between ERK1/2 and repositioning of cell nuclei

 Antoku et al., 2019
LmnaGT–/– (Lmna null mouse to study cardiac development) Growth retardation; defects in heart development; decreased amount of subcutaneous fat; death by 2–3 weeks of age Alteration in gene transcription profile: delayed muscle and cardiac differentiation/maturation. Kubben et al., 2011
LmnadelK32/delK32 (Lmna null mouse to study cardiac development) Growth retardation; defects in heart development; decreased amount of subcutaneous fat; death by 2–3 weeks of age Gene transcription profile defects: deregulation of genes involved in cell metabolism and adipogenesis. Bertrand et al., 2012

DCM, dilated cardiomyopathy; DCM-CD, dilated cardiomyopathy-conduction defect; Cx40, Connexin 40; Cx43, Connexin 43.