| First Author | Geisterfer-Lowrance AA | Year | 1996 |
| Journal | Science | Volume | 272 |
| Issue | 5262 | Pages | 731-4 |
| PubMed ID | 8614836 | Mgi Jnum | J:32960 |
| Mgi Id | MGI:80448 | Doi | 10.1126/science.272.5262.731 |
| Citation | Geisterfer-Lowrance AA, et al. (1996) A mouse model of familial hypertrophic cardiomyopathy. Science 272(5262):731-4 |
| abstractText | A mouse model of familial hypertrophic cardiomyopathy (FHC) was generated by the introduction of an Arg 403 --> Gln mutation into the alpha cardiac myosin heavy chain (MHC) gene. Homozygous alpha MHC 403/403 mice died 7 days after birth, and sedentary heterozygous alpha MHC 403/+ mice survived for 1 year. Cardiac histopathology and dysfunction in the alpha MHC 403/+ mice resembled human FHC. Cardiac dysfunction preceded histopathologic changes, and myocyte disarray, hypertrophy, and fibrosis increased with age. Young male alpha MHC 403/+ mice showed more evidence of disease than did their female counterparts. Preliminary results suggested that exercise capacity may have been compromised in the alpha MHC 403/+ mice. This mouse model may help to define the natural history of FHC. |
