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Allelic and mechanistic heterogeneity underlie variable expressivity and pleiotropism – a case study in mouse genetics

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AuthorBlock: Douglas B. Gould1,2
1Ophthalmology, University of California, San Francisco, San Francisco, California, United States; 2Anatomy, UCSF School of Medicine, San Francisco, California, United States;

DisclosureBlock: Douglas B. Gould, None;

Presentation Description
The objective of this presentation is to discuss ways in which mouse genetic models can be used to understand pathogenic mechanisms that contribute to human disease. I will use our work on type IV collagen alpha 1 (COL4A1) to underscore how allelic and mechanistic heterogeneity contribute to human disease and how mouse models provide powerful tools to understand this complexity in the search for mechanism based interventions.