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A Mouse Model of Familial Hypertrophic Cardiomyopathy

Geisterfer-Lowrance, Anja A. T., Christe, Michael, Conner, David A., Ingwall, Joanne S., Schoen, Frederick J., Seidman, Christine E., Seidman, J. G.·1996·Science

Abstract

A mouse model of familial hypertrophic cardiomyopathy (FHC) was generated by the introduction of an Arg 403 → Gln mutation into the α cardiac myosin heavy chain (MHC) gene. Homozygous αMHC 403/403 mice died 7 days after birth, and sedentary heterozygous αMHC 403/+ mice survived for 1 year. Cardiac histopathology and dysfunction in the αMHC 403/+ mice resembled human FHC. Cardiac dysfunction preceded histopathologic changes, and myocyte disarray, hypertrophy, and fibrosis increased with age. Young male αMHC 403/+ mice showed more evidence of disease than did their female counterparts. Preliminary results suggested that exercise capacity may have been compromised in the αMHC 403/+ mice. This mouse model may help to define the natural history of FHC.

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Metadata

Authors
Geisterfer-Lowrance, A. A. T., Christe, M., Conner, D. A., Ingwall, J. S., Schoen, F. J., Seidman, C. E., & Seidman, J. G.
Venue
Science
Published
1996-05-03
Volume
272
Issue
5262
Pages
731-734
ISSN
  • 0036-8075 (ISSN-L)
  • 1095-9203
OpenAlex
W1988373211
Cited by
556
References
0
FWCI
29.78
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: A Mouse Model of Familial Hypertrophic Cardiomyopathy. https://app.cochat.ai/papers/10.1126/science.272.5262.731
The paper
Geisterfer-Lowrance, A. A. T., Christe, M., Conner, D. A., Ingwall, J. S., Schoen, F. J., Seidman, C. E., & Seidman, J. G. (1996). A Mouse Model of Familial Hypertrophic Cardiomyopathy. Science. https://doi.org/10.1126/science.272.5262.731

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.