Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice.

ABSTRACT:

Purpose

The pathogenesis of uveal coloboma, a potentially blinding congenital ocular malformation, is incompletely understood. We characterize a novel mouse model of coloboma, Retinal and Iris Coloboma (RICO).

Methods

Transgenic mice were created by insertion of a human vascular endothelial growth factor-165 (hVEGF) gene driven by a neuron-specific enolase promoter. Mice were examined clinically and histologically, and the insertion site was characterized by fluorescence in situ hybridization and genomic sequencing. Gene expression changes were assessed with RNA sequencing, immunofluorescence, and in situ hybridization.

Results

RICO mice are viable in the homozygous state and exhibit fully penetrant autosomal semidominant coloboma. Coloboma is associated with persiste

SUBMITTER: Wang YA 

PROVIDER: S-EPMC12510387 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature