| First Author | Jones WK | Year | 1996 |
| Journal | J Clin Invest | Volume | 98 |
| Issue | 8 | Pages | 1906-17 |
| PubMed ID | 8878443 | Mgi Jnum | J:36089 |
| Mgi Id | MGI:83539 | Doi | 10.1172/JCI118992 |
| Citation | Jones WK, et al. (1996) Ablation of the murine alpha myosin heavy chain gene leads to dosage effects and functional deficits in the heart. J Clin Invest 98(8):1906-17 |
| abstractText | The alpha-myosin heavy chain (alpha-MyHC) is the major contractile protein expressed in the myocardium of adult mice. We have produced mice carrying a null mutation of alpha-MyHC by homologous recombination in murine ES cells. Homozygous null animals die between 11 and 12 d in utero of gross heart defects, while alpha-MyHC+/- heterozygotes survive and appear externally normal. The presence of a single functional alpha-MyHC+ allele in heterozygous animals results in reduced levels of the transcript and protein as well as fibrosis and alterations in sarcomeric structure. Examination of heart function using a working heart preparation revealed severe impairment of both contractility and relaxation in a subset of the alpha-MyHC+/- animals. Thus, two alpha-MyHC+ alleles are necessary for normal cardiac development, and hemizygosity for the normal allele can result in altered cardiac function. |
