The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function.

ABSTRACT: Mutations in the microphthalmia-associated transcription factor (Mitf) gene can cause retinal pigment epithelium (RPE) and retinal dysfunction and degeneration. We examined retinal and RPE structure and function in 3 month old mice homo- or heterozygous or compound heterozygous for different Mitf mutations (Mitf^mi-vga9/+, Mitf^{mi-enu22(398)}/Mitf^{mi-enu22(398)}, Mitf^Mi-Wh/+ and Mitf^Mi-Wh/Mitf^mi) which all have normal eye size with apparently normal eye pigmentation. Here we show that their vision and retinal structures are differentially affected. Hypopigmentation was evident in all the mutants while bright-field fundus images showed yellow spots with non-pigmented areas in the Mitf^mi-vga9/+ mice. Mitf^Mi-Wh/+

SUBMITTER: Garcia-Llorca A 

PROVIDER: S-EPMC6817937 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature