HIC2 is a novel dosage-dependent regulator of cardiac development within the distal 22q11 deletion syndrome region

ABSTRACT: Rationale: 22q11 deletion syndrome arises from recombination between low copy repeats on chromosome 22. Typical deletions result in hemizygosity for TBX1 associated with congenital cardiovascular disease. Deletions distal to the typically deleted region result in a similar cardiac phenotype but lack extra-cardiac features of the syndrome suggesting that a second haploinsufficient gene maps to this interval. Objective: The transcription factor HIC2 is lost in most distal deletions as well as a minority of typical deletions. We used mouse models to test the hypothesis that HIC2 hemizygosity causes congenital heart disease. Methods and Results: We created a genetrap mouse allele of Hic2. The genetrap reporter was expressed in the heart throughout the key stages of cardiac morphogenesis.

ORGANISM(S): Mus musculus

SUBMITTER: Iain Dykes 

PROVIDER: E-GEOD-56430 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress