Transcription profiling of mouse Dll3 and Notch1 homozygous mutant embryos to investigate craniofacial malformations of human birth defects

ABSTRACT: Mutations in the Notch1 receptor and delta-like 3 (Dll3) ligand cause global disruptions in axial segmental patterning. Genetic interactions between members of the notch pathway have previously been shown to cause patterning defects not observed in single gene disruptions. We examined Dll3-Notch1 compound mouse mutants to screen for potential gene interactions. While mice heterozygous at either locus appeared normal, 30% of Dll3-Notch1 double heterozygous animals exhibited localized, stochastic segmental anomalies similar to human congenital vertebral defects. Unexpectedly, double heterozygous mice also displayed statistically significant decreases in mandibular height and elongated maxillary hard palate. Examination of somite-stage embryos and perinatal anatomy and histology did not

ORGANISM(S): Mus musculus

SUBMITTER: Kenro Kusumi 

PROVIDER: E-GEOD-8027 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress