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|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|
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 . 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  and increased cataracts at 2, 6 and 12 months; Myh9Q1443L/Q1443L animals at 12 months have changes in kidney output . 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. |
|Appears in Collections:||Master|
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