Mouse Models of Developmental Genetic Disease

Approximately three percent of newborn humans have congenital anomalies with significant cosmetic and/or functional consequences. Much of our ability to understand what has gone awry in these birth defects rests with development of animal models for them; the mouse has emerged as the model organism of choice for these studies. This volume reviews mouse models of specific developmental genetic diseases, including neural tube defects; cleft lip and/or palate; congenital heart disease; ciliopathies; hereditary deafness and others to provide conceptual insight into congenital anomalies generally. The interplay between clinical observation and murine model systems is expected to yield deep insight into mammalian developmental processes and the emergence of effective preventive and/or therapeutic strategies.

• Provides busy clinical and basic science researchers a one-stop overview and synthesis of the latest research findings and contemporary thought in the area
• Allows researchers to compare and contrast disease models and also to learn about what models have been developed for large-scale distribution
• Allows researchers to evaluate basic differences in mouse and human biology and propose alternate pathways and possible gene interactions of the disease

Robert S. Krauss is Mount Sinai Chair in Cell Biology; Professor of Cell, Developmental, and Regenerative Biology at the Icahn School of Medicine at Mount Sinai; and a member of The Black Family Stem Cell Institute and Mindich Child Health and Development Institute. His work focuses on the mechanisms of early embryonic development and adult tissue regeneration. His laboratory uses a wide combination of approaches to gain insight into how genes and the environment interact in the causation of common birth defects, and how adult stem cells are called into action to repair injury to tissues. His lab has constructed accurate animal models for holoprosencephaly, a common and often devastating birth defect, leading to identification of genetic and environmental risk factors. In other work, his lab has identified factors critical to regulation of adult stem cells and muscle regeneration.