Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice.

ABSTRACT: Variants in the LIM homeobox transcription factor 1-beta (LMX1B) gene predispose individuals to elevated intraocular pressure (IOP), a key risk factor for glaucoma. However, the effect of LMX1B mutations varies widely between individuals. To better understand the mechanisms underlying LMX1B-related phenotypes and individual differences, we backcrossed the Lmx1b^V265D (also known as Lmx1b^Icst ) allele onto the C57BL/6J (B6), 129/Sj (129), C3A/BLiA-Pde6b⁺ /J (C3H) and DBA/2J-Gpnmb⁺ (D2-G) mouse strain backgrounds. Strain background had a significant effect on the onset and severity of ocular phenotypes in Lmx1b^V265D/+ mutant mice. Mice of the B6 background were the most susceptible to devel

SUBMITTER: Tolman NG 

PROVIDER: S-EPMC7903917 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature