The goal of this project is to identify a mouse model for the human disease Meckel syndrome. The use of random chemical mutagenesis in the Meckel syndrome candidate region has produced several mouse mutants that have phenotypes similar to human patients. These mutant mice will be further characterized as models for Meckel syndrome. The mutations will then be mapped, and the mutated genes will be identified by positional cloning. The causative gene for Meckel syndrome has not yet been isolated from studies in human patients, although two candidate regions have been identified through linkage analysis on affected families. Therefore, this project seeks to identify the Meckel syndrome gene, which will be useful as a diagnostic tool for families with a history of Meckel syndrome. Additionally, the mouse model will be used to characterize the biological pathway that is affected in Meckel syndrome which would otherwise be difficult due to the rarity and severity of the disease in humans.
| Hentges, Kathryn E; Nakamura, Hisashi; Furuta, Yasuhide et al. (2006) Novel lethal mouse mutants produced in balancer chromosome screens. Gene Expr Patterns 6:653-65 |
| Hentges, Kathryn E; Weiser, Keith C; Schountz, Tony et al. (2005) Evi3, a zinc-finger protein related to EBFAZ, regulates EBF activity in B-cell leukemia. Oncogene 24:1220-30 |
| Hentges, Kathryn E; Justice, Monica J (2004) Checks and balancers: balancer chromosomes to facilitate genome annotation. Trends Genet 20:252-9 |
| Hentges, Kathryn E; Kyttala, Mira; Justice, Monica J et al. (2004) Comparative physical maps of the human and mouse Meckel syndrome critical regions. Mamm Genome 15:252-64 |
