Article
Analysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypes.
Genetics - 1 Aug 2009
Favor Jack, Bradley Alan, Conte Nathalie, Janik Dirk, Pretsch Walter, Reitmeir Peter, Rosemann Michael, Schmahl Wolfgang, Wienberg Johannes, Zaus Irmgard
Abstract excerpt
In the mouse Pax6 function is critical in a dose-dependent manner for proper eye development. Pax6 contiguous gene deletions were shown to be homozygous lethal at an early embryonic stage. Heterozygotes express belly spotting and extreme microphthalmia. The eye phenotype is more severe than in heterozygous Pax6 intragenic null mutants, raising the possibility that deletions are functionally different from...
Topics
- Animals
- Body Patterning
- Calcium-Binding Proteins
- Eye Abnormalities
- Eye Proteins
- Gene Deletion
- Genes, Lethal
- Homeodomain Proteins
- Mice
- PAX6 Transcription Factor
- Paired Box Transcription Factors
- Phenotype