Meckel-Gruber Syndrome (MKS)

Following the identification of the MKS3 gene, we are now involved in genetic and cellular studies of this disorder:

1. Screening for mutations in the MKS1 and MKS3 genes, plus other recently identified MKS genes, and correlating the genetic with phenotypic data.
2. Analyze the consequences of Mks3 mutation at the cellular and organ level by analyzing the wpk rat.
3. Analyzing the cellular location and function of the MKS1 and MKS3 proteins.