ArticleGenetics2001
Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus.
Article in Genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 77 citations in OpenAlex.
- Review
- Japanese medaka Olpax6.1 mutant as a potential model for spondylo-ocular syndrome.Functional & integrative genomics · 2023Article
- Review
- PAX6 mutation alters circadian rhythm and β cell function in mice without affecting glucose tolerance.Communications biology · 2020Article
- Epistasis between Pax6Gene therapy · 2018Article
- Relationship between somatic mosaicism of Pax6 mutation and variable developmental eye abnormalities-an analysis of CRISPR genome-edited mouse embryos.Scientific reports · 2017Article
- The Pax gene family: Highlights from cephalopods.PloS one · 2017Article
- Analysis of compound heterozygotes reveals that the mouse floxed Pax6 (tm1Ued) allele produces abnormal eye phenotypes.Transgenic research · 2016Article
- Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.Developmental biology · 2015Article
- Gene regulation by PAX6: structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204.Molecular vision · 2014Article
- An allelic series at the paired box gene 6 (Pax6) locus reveals the functional specificity of Pax genes.The Journal of biological chemistry · 2013Article
- Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation.Development (Cambridge, England) · 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
- Combinatorial regulation of optic cup progenitor cell fate by SOX2 and PAX6.Development (Cambridge, England) · 2011Article
- The transcription factor Pax6 regulates survival of dopaminergic olfactory bulb neurons via crystallin αA.Neuron · 2010Article
- The Pax6b homeodomain is dispensable for pancreatic endocrine cell differentiation in zebrafish.The Journal of biological chemistry · 2010Article
- Relative roles of the different Pax6 domains for pancreatic alpha cell development.BMC developmental biology · 2010Article
- Mutational analysis of the eyeless gene and phenotypic rescue reveal that an intact Eyeless protein is necessary for normal eye and brain development in Drosophila.Developmental biology · 2009Article
- Article
- Relationship of Pax6 activity levels to the extent of eye development in the mouse, Mus musculus.Genetics · 2008Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Phenotype-based mutagenesis experiments will increase the mouse mutant resource, generating mutations at previously unmarked loci as well as extending the allelic series at known loci. Mapping, molecular characterization, and phenotypic analysis of nine independent Pax6 mutations of the mouse recovered in mutagenesis experiments is presented. Seven mutations result in premature termination of translation and all express phenotypes characteristic of null alleles, suggesting that Pax6 function requires all domains to be intact. Of major interest is the identification of two possible hypomorph mutations: Heterozygotes express less severe phenotypes and homozygotes develop rudimentary eyes and nasal processes and survive up to 36 hr after birth. Pax6(4Neu) results in an amino acid substitution within the third helix of the homeodomain. Three-dimensional modeling indicates that the amino acid substitution interrupts the homeodomain recognition alpha-helix, which is critical for DNA binding. Whereas cooperative dimer binding of the mutant homeodomain to a paired-class DNA target sequence was eliminated, weak monomer binding was observed. Thus, a residual function of the mutated homeodomain may explain the hypomorphic nature of the Pax6(4Neu) allele. Pax6(7Neu) is a base pair substitution in the Kozak sequence and results in a reduced level of Pax6 translation product. The Pax6(4Neu) and Pax6(7Neu) alleles may be very useful for gene-dosage studies.
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