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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/32529

Title: Identifying and Phenotyping an ENU Derived Mouse Model of MYH9 Related Disease
Authors: Berndl, Elizabeth Sara Lefebvre
Advisor: Stanford, William L.
Department: Biomedical Engineering
Keywords: ENU
MYH9-RD
Next Generation Sequencing
Issue Date: 24-Jul-2012
Abstract: A dominant ENU screen produced mouse line 7238 with large platelets. Sequence capture and Next Generation sequencing identified a mutation in Myh9 at Q1443L [1]. Mice were tested for aspects of MYH9-Related Disease (MYH9RD), a rare human condition caused by mutations within MYH9; macrothrombocytopenia and neutrophil inclusions are found in almost all cases, while deafness, cataracts and renal disease have variable penetrance and severity. Myh9Q1443L/+ and Myh9Q1443L/Q1443L animals have neutrophil inclusions [1] and increased cataracts at 2, 6 and 12 months; Myh9Q1443L/Q1443L animals at 12 months have changes in kidney output [2]. Immunofluoresence showed changes in protein expression in glomeruli at two months. This is the first ENU mouse model identified by a sequence capture mechanism, and the first mouse line to produce a point mutation within the Myh9 gene [1,2]. This mouse models MYH9RD, and is an invaluable tool to understand the role of this protein, and to determine mechanisms underlying this disease. 
URI: http://hdl.handle.net/1807/32529
Appears in Collections:Master

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