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. 2015 Jan 19;105(4):439–448. doi: 10.1093/cvr/cvv006

Table 1.

Animal models of sarcomeric cardiomyopathy

Model Breed Phenotype Affected gene Mutations Advantages Disadvantages
Naturally occurring models
Cat7–12 Maine Coon
Ragdoll		 HCM MYPBC3 c.91G>C [p.Ala31Pro]
c.2328C>T
[p.Arg820Trp]

  • - Recapitulates the human phenotype.

  • - Gene targeting is difficult and expensive.
Dog13–25 Port. Waterdogs
Great Danes
Doberman
Boxers		 DCM
DCM
DCM
DCM/ARVC		 Uncertain
Uncertain
Uncertain
Uncertain		 Unknown
Unknown
Unknown
Unknown

  • - Recapitulates the human phenotype.

  • - Large animals allowing clinical imaging and diagnostics.

 - Genes and mutations presently unknown.- Gene targeting is difficult.
Genetically engineered models
Mouse26–40 HCM
HCM
DCM		 Mybpc3, Myh6, Tnni3,
Tnnt2, Tpm1
Mybpc3, Myh6, Tnnt2
Mlp/Csrp3 		Transgenesis
Knock-in/-out
Knock-out

  • - Transgenesis respects sarcomere stoichiometry (replacement of endogenous protein by exogenous one).

  • - Knock-in mice recapitulate human genetics.

  • - Mammalian heart.

  • - Homozygotes more severe phenotype than heterozygotes.

  • - Cardiac biology different from large mammals.

  • - Expresses Myh6.
Rat41 HCM Tnnt2 Transgenesis (truncated
protein)

  • - Mammalian heart.

  • - Reproduce diastolic dysfunction and arrhythmias.

  • - Cardiac biology different from large mammals.
Rabbit42 HCM TNNI3 Transgenesis

  • - Cardiac physiology close to humans.

  • - Mammalian heart with low heart rate.

  • - Expresses MYH7 like human heart.
Zebrafish43 DCM Mybpc3 [p.Val762Asp/p.
Arg820Gln]

  • - Embryos develop very fast and are fully transparent: non-invasive in vivo imaging.

  • - Forward and reverse genetics toolbox.

  • - Compound heterozygotes severe phenotype.

  • - Non-mammalian heart.
Drosophila44,45 HCM
RCM		 mybpc3
tnnt2 		Wild-type, truncated up101 TnT1

  • - Mammalian-like early heart development.

  • - Easy gene expression manipulation with the UAS/GAL4 system.

  • - Diastolic dysfunction

  • - Non-vertebrate heart.

HCM: hypertrophic cardiomyopathy; DCM: dilated cardiomyopathy; ARVC: arrhythmogenic right ventricular cardiomyopathy; RCM: restrictive cardiomyopathy; Gene abbreviations used: Mybpc3: cardiac myosin-binding protein C; Myh6: α-myosin heavy chain; Myh7: β-myosin heavy chain; Tnni3: cardiac troponin I; Tnnt2: cardiac troponin T; ilk: integrin-linked kinase; mlp/Csrp3: cysteine and glycine-rich protein; not3: CG8426 gene product from the transcript CG8426-RB.