Maria Festing's Project

TGIF mutations on murine development

Maria is examining the effects of TGIF mutations on murine development. TGIF is a gene that functions as a Smad corepressor, downregulating Smad target genes. Genetic analyses in humans have pinpointed TGIF as a gene responsible for holoprosencephaly, one of the most common birth defects in humans. Mice that lack TGIF do not appear to suffer from holoprosencephaly. Since Smad2/3 compound heterozygotes exhibit this birth defect, Maria is breeding TGIF mutations onto the Smad2 and Smad3 strains, to see if the compound heterozygotes exhibit holoprosencephaly (such as the embryo shown), or if TGIF mutations affect the rate at which holoprosencephaly appears in the Smad2/3 mutant embryos. In addition, Maria, along with others in the lab, has generated a conditional knockout at the Smad2 locus, as shown in the southern blot. Maria will use this to further analyze Smad2 functions during mammalian development.