ArticleGenetics2008
Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus.
Article in Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
29 citing papers in PubMed, 45 citations in OpenAlex.
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Japanese medaka Olpax6.1 mutant as a potential model for spondylo-ocular syndrome.Functional & integrative genomics · 2023Article
- Knockout ofInternational journal of molecular sciences · 2023Article
- Review
- Expanding the Phenotypic Spectrum ofGenes · 2021Article
- PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance.Communications biology · 2020Article
- Pax6 organizes the anterior eye segment by guiding two distinct neural crest waves.PLoS genetics · 2020Article
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.Experimental eye research · 2019Article
- Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways.Scientific reports · 2017Article
- Efficacy of Postnatal In Vivo Nonsense Suppression Therapy in a Pax6 Mouse Model of Aniridia.Molecular therapy. Nucleic acids · 2017Article
- Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryos.Scientific reports · 2017Article
- Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.Endocrine reviews · 2016Review
- Analysis of compound heterozygotes reveals that the mouse floxed Pax6 (tm1Ued) allele produces abnormal eye phenotypes.Transgenic research · 2016Article
- Connexin23 deletion does not affect lens transparency.Experimental eye research · 2016Article
- Pax6 in Collembola: Adaptive Evolution of Eye Regression.Scientific reports · 2016Article
- Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.Developmental biology · 2015Article
- Advances in retinal stem cell biology.Journal of ophthalmic & vision research · 2013Article
- Novel small-eye allele in paired box gene 6 (Pax6) is caused by a point mutation in intron 7 and creates a new exon.Molecular vision · 2013Article
- Uberon, an integrative multi-species anatomy ontology.Genome biology · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
In this study we extend the mouse Pax6 mutant allelic series to include a homozygous and hemizygous viable hypomorph allele. The Pax6(132-14Neu) allele is a Phe272Ile missense mutation within the third helix of the homeodomain. The mutant Pax6 homeodomain shows greatly reduced binding activity to the P3 DNA binding target. Glucagon-promoter activation by the entire mutant Pax6 product of a reporter gene driven by the G1 paired and homeodomain DNA binding target was slightly increased. We constructed mutant Pax6 genotypes such that Pax6 activity ranged between 100 and 0% and show that the extent of eye development is progressively reduced as Pax6 activity decreased. Two apparent thresholds identify three groups in which the extent of eye development abruptly shifted from complete eye at the highest levels of Pax6 to a rudimentary eye at intermediate levels of Pax6 to very early termination of eye development at the lowest levels of Pax6. Of the two Pax6-positive regions that participate in eye development, the surface ectoderm, which develops into the lens vesicle and the cornea, is more sensitive to reduced levels of Pax6 activity than the optic vesicle, which develops into the inner and outer retinal layers.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.