International Mammalian Genome Society

The 15th International Mouse Genome Conference (2001)


POSTER 152 - MES, A MOUSE MODEL FOR CONNECTIVE TISSUE DEVELOPMENTAL DEFECTS

Dr Marcia Budarf
University of Penn.School of Medicine
Div Human Genetics/Dept Pediatrics
1002 ARC
The Children's Hosp of Philadelphia
34th & Civic Center Blvd
Philadelphia 19104-4399 USA

Co-Authors:  1)Williams PT, 2)Seykora J, 2)Fakharzadeh SS, 3)Oakey RJ
Institutions:   1)Division of Human Genetics, The Children's Hosp of Philadelphia, 2)Dept of Dermatology, University of Pennsylvania School of Medicine, 3) Division of Human/Genetics/Dept. of Pediatrics, The Children's Hosp of Philadelphia & University of Pennsylvania School of Medicine

The formation of the connective tissues from the mesoderm is a remarkably complex process. By studying established mutant mouse strains with connective tissue defects, much can be learned regarding the development of mesoderm derived structures. Mesenchymal dysplasia (mes) is a mouse mutation that affects mesenchyme formation (Sweet et al., 1996). Mice homozygous for this mutation have multiple skeletal anomalies, craniofacial defects, excessive skin and increased musculature. mes has been mapped by observation of visible phenotype to mouse chromosome 13. Although the gene involved in the mes mutation has not been identified, its pleiotropic effect suggests that it acts at an early step of mesenchyme development.

As part of an effort to identify the mes locus, we have utilized an outcross-intercross to refine its map position. Heterozygous mes mice, obtained from the Jackson Labs, were crossed with M. castaneus mice. On the new genetic background, the mes/mes mice express all of the previously described phenotypic features, including excessive skin, kinky tail, preaxial polydactyly and dome-shaped skull. DNA has been extracted from the F2 animals and genotyping is in progress. One of the unique features of the mes mouse is the excessive skin. Preliminary studies comparing mes/mes to normal controls suggest that there is more subcutaneous fat and anagen hair follicles in the skin of affected mice. Additional studies are underway to follow up these observations.


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