Deletion of a Long-Range Dlx5 Enhancer Disrupts Inner Ear Development in Mice.

ABSTRACT: Distal enhancers are thought to play important roles in the spatiotemporal regulation of gene expression during embryonic development, but few predicted enhancer elements have been shown to affect transcription of their endogenous genes or to alter phenotypes when disrupted. Here, we demonstrate that a 123.6-kb deletion within the mouse Slc25a13 gene is associated with reduced transcription of Dlx5, a gene located 660 kb away. Mice homozygous for the Slc25a13 deletion mutation [named hyperspin (hspn)] have malformed inner ears and are deaf with balance defects, whereas previously reported Slc25a13 knockout mice showed no phenotypic abnormalities. Inner ears of Slc25a13^hspn/hspn mice have malformations similar to those of Dlx5

SUBMITTER: Johnson KR 

PROVIDER: S-EPMC5844329 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature