Mouse Models of Human MYH9-Related Diseases

Mouse models of human diseases

The value of the mouse as a model for human disease has become firmly established as new mutants are repeatedly validated as models of human disease and, increasingly, the similarities in the pathobiology of the two species provide new insights into disease mechanisms and aetiologies (Peters et al., 2007; Rosenthal and Brown, 2007; Justice, 2008; Brown et al., 2009). Mutant strains derived from...

PLATELETS AND THROMBOPOIESIS Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A

1National Heart, Lung, and Blood Institute, National Institutes of Health (NIH), Bethesda, MD; 2Department of Medicine, Duke University Medical Center, Durham, NC; 3Office of Research Services, Division of Veterinary Resources, 4National Eye Institute, and 5National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD; 6Medical Service, Durham Veterans Affairs Medical Cent...

Mouse models of MYH9-related disease: mutations in nonmuscle myosin II-A.

We have generated 3 mouse lines, each with a different mutation in the nonmuscle myosin II-A gene, Myh9 (R702C, D1424N, and E1841K). Each line develops MYH9-related disease similar to that found in human patients. R702C mutant human cDNA fused with green fluorescent protein was introduced into the first coding exon of Myh9, and D1424N and E1841K mutations were introduced directly into the corre...

MYH9-related platelet disorders.

Myosin heavy chain 9 (MYH9)-related platelet disorders belong to the group of inherited thrombocytopenias. The MYH9 gene encodes the nonmuscle myosin heavy chain IIA (NMMHC-IIA), a cytoskeletal contractile protein. Several mutations in the MYH9 gene lead to premature release of platelets from the bone marrow, macrothrombocytopenia, and cytoplasmic inclusion bodies within leukocytes. Four overla...

Mouse models of the nuclear envelopathies and related diseases. Preface.