Haploinsufficiency Is Not the Key Mechanism of Pathogenesis in a Heterozygous<i>Elovl4</i>Knockout Mouse Model of STGD3 Disease

Abstract

The detailed characterization of this animal model provides the first in vivo evidence that Elovl4 haploinsufficiency is not the underlying key disease mechanism in STGD3. The results are consistent with a dominant negative mechanism for the deletion mutation. The Elovl4 knockout mouse is one of three complementary animal models that will help elucidate the disease mechanism.