Optic nerve axon number in mouse is regulated by PAX2.

doi:10.1016/j.jaapos.2007.08.007

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Article

Optic nerve axon number in mouse is regulated by PAX2.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Apr 2008

Alur Ramakrishna P, Cox Terry A, Crawford Mary Alice, Gong Xiaohua, Brooks Brian P

Abstract excerpt

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...

Topics

Animals
Axons
Crosses, Genetic
Disease Models, Animal
Humans
Kidney
Mice
Mice, Inbred C57BL
Monophenol Monooxygenase
Mutation
Optic Disk
Optic Nerve
PAX2 Transcription Factor

Source

Open in PubMed Open full text

Identifiers

PMID: 18083586
DOI: 10.1016/j.jaapos.2007.08.007
PMCID: PMC2435283

Genes

PAX2

Variants

Provenance

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