Comparative Genomics, Illinois

University of Illinois at Urbana-Champaign

Peer Reviewed Articles

DNA-based Animal Models of Human Disease: from Genotype to Phenotype

L.B. Schook, K. Kuzmuk, S. Adam, L. Rund, K. Chen,
M. Rogatcheva, M. Mazur, C. Pollock, C. Counter

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Abstract

Biomedical research utilizes animal models to elucidate human disease processes
at the cellular and molecular level and for the development of new therapies. Traditionally,
mammalian models have been limited to the mouse, primarily because of well characterized
genetic lines and the ability to manipulate the genome to directly test hypotheses regarding
causal mutations and disease phenotypes. The emerging availability of genome sequences of
other mammals (bovine, canine, equine, feline, and porcine) now permits utilization of the
mammal in which the phenotype best approximates the human condition. Equally important is
the use of somatic cell nuclear cloning (SCNT) coupled with targeted germline manipulation to
create animals to resolve the molecular mechanisms of the disease state. Our efforts have
focused on the pig, which has emerged as an important biomedical mammalian model due to
its closer physiology to humans. The utility of porcine genetically-defined tumour, cardiovascular and neurological disease models is described.