Genetic dissection of Pax6 dosage requirements in the developing mouse eye.

doi:10.1093/hmg/ddi231

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Article

Genetic dissection of Pax6 dosage requirements in the developing mouse eye.

Human molecular genetics - 1 Aug 2005

Davis-Silberman Noa, Kalich Tomer, Oron-Karni Varda, Marquardt Till, Kroeber Markus, Tamm Ernst R, Ashery-Padan Ruth

Abstract excerpt

Haploinsufficiency of the transcription factor Pax6/PAX6 has been implicated in a number of congenital eye disorders in humans and mice, such as aniridia and Small-eye, which affect the development and function of the lens, cornea, anterior eye segment and neuroretina. However, the widespread distribution of Pax6/PAX6 protein within the developing and adult eye preclude the identification and direct study of the...

Topics

Alleles
Animals
Cell Differentiation
Cornea
Eye Abnormalities
Eye Proteins
Gene Dosage
Genotype
Homeodomain Proteins
Iris
Lens, Crystalline
Mice
Mice, Mutant Strains
Mice, Transgenic
Morphogenesis
PAX6 Transcription Factor
Paired Box Transcription Factors
Phenotype

Source

Open in PubMed

Identifiers

PMID: 15987699
DOI: 10.1093/hmg/ddi231

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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