Congenital Heart Disease Gene Discovery in Mouse Models

Mouse lines with congenital heart defects (CHD) have been recovered from a large-scale ultrasound screen of C57BL6/J mice mutagenized with ethynitrosourea (ENU). Analysis by whole exome sequencing enables recovery of the ENU-induced mutations, both disease causing mutation(s) and also other incidental mutations not known to contribute to the disease phenotype. The totality of these mutations is searchable in the CvDC Mouse ENU-Induced Mutation Database. All lines have been sperm cryopreserved at the Jackson Laboratory, and are available to interested investigators who wish to re-animate a line. Phenotype information associated with each mutant line is annotated in the Mouse Genome Informatics (MGI) database, and genotype information is also curated if the disease-causing mutation has been identified and confirmed.

ENU mutation, causative gene, and phenotype terms are searchable through the query function of the Model Organism page.