GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:19474196

From GONUTS
Jump to: navigation, search
Citation

Favor, J, Bradley, A, Conte, N, Janik, D, Pretsch, W, Reitmeir, P, Rosemann, M, Schmahl, W, Wienberg, J and Zaus, I (2009) 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 182:1077-88

Abstract

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 intragenic null mutations or that a region distinct from Pax6 included in the deletions affects eye phenotype. We recovered and identified the exact regions deleted in three new Pax6 deletions. All are homozygous lethal at an early embryonic stage. None express belly spotting. One expresses extreme microphthalmia and two express the milder eye phenotype similar to Pax6 intragenic null mutants. Analysis of Pax6 expression levels and the major isoforms excluded the hypothesis that the deletions expressing extreme microphthalmia are directly due to the action of Pax6 and functionally different from intragenic null mutations. A region distinct from Pax6 containing eight genes was identified for belly spotting. A second region containing one gene (Rcn1) was identified for the extreme microphthalmia phenotype. Rcn1 is a Ca(+2)-binding protein, resident in the endoplasmic reticulum, participates in the secretory pathway and expressed in the eye. Our results suggest that deletion of Rcn1 directly or indirectly contributes to the eye phenotype in Pax6 contiguous gene deletions.

Links

PubMed PMC2728849 Online version:10.1534/genetics.109.104562

Keywords

Animals; Body Patterning/genetics; Calcium-Binding Proteins/genetics; Calcium-Binding Proteins/physiology; Eye Abnormalities/genetics; Eye Proteins/genetics; Eye Proteins/physiology; Gene Deletion; Genes, Lethal; Homeodomain Proteins/genetics; Homeodomain Proteins/physiology; Mice; Paired Box Transcription Factors/genetics; Paired Box Transcription Factors/physiology; Phenotype; Repressor Proteins/genetics; Repressor Proteins/physiology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:RCN1

acts_upstream_of_or_within

GO:0001701: in utero embryonic development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

MOUSE:RCN1

acts_upstream_of_or_within

GO:0043010: camera-type eye development

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.