Optic nerve axon number in mouse is regulated by PAX2.

ABSTRACT:

Background

Papillorenal syndrome is an autosomal-dominant disease caused by mutations in the PAX2 transcription factor gene. Patients often exhibit congenital excavation of the optic nerve and a spectrum of congenital kidney abnormalities. Using a novel mouse model of this syndrome (C57BL/6J PAX2(A220G/+)), we investigated the effect of PAX2 haploinsufficiency on optic nerve axon number. Because PAX2 expression and retinal pigment epithelium pigmentation have a mutually exclusive relationship during development and because tyrosinase (Tyr) has been shown to modify the penetrance of other ocular development genes, we also investigated whether tyrosinase modified the mutant PAX2 phenotype.

Methods

C57BL/6J PAX2(A220G/+)Tyr(+/+) mice were crossed with mice of the same genetic b

SUBMITTER: Alur RP 

PROVIDER: S-EPMC2435283 | biostudies-literature | 2008 Apr

REPOSITORIES: biostudies-literature