ArticleMammalian genome : official journal of the International Mammalian Genome Society2004
An ENU-induced mutation in AP-2alpha leads to middle ear and ocular defects in Doarad mice.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Advances in prenatal ultrasound diagnosis of fetal tympanic ring anomalies.Frontiers in medicine · 2026Review
- Modern Plant Breeding Techniques in Crop Improvement and Genetic Diversity: From Molecular Markers and Gene Editing to Artificial Intelligence-A Critical Review.Plants (Basel, Switzerland) · 2024Review
- KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.Molecular medicine reports · 2020Article
- Genome-wide mapping of global-to-local genetic effects on human facial shape.Nature genetics · 2018Article
- Association of TFAP2A gene polymorphism with susceptibility to non-syndromic cleft lip with or without palate risk in south Indian population.Meta gene · 2016Article
- Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.Human molecular genetics · 2013Article
- [Characterization of ENU-mutant mice. Animal models for human diseases using morphological and molecular methods].Der Pathologe · 2010Article
- Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.Molecular vision · 2010Review
- Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.Human genetics · 2009Article
- A new mouse mutant for the LDL receptor identified using ENU mutagenesis.Journal of lipid research · 2008Article
- TFAP2A mutations result in branchio-oculo-facial syndrome.American journal of human genetics · 2008Article
- Identification and analysis of a conserved Tcfap2a intronic enhancer element required for expression in facial and limb bud mesenchyme.Molecular and cellular biology · 2008Article
- Neurobehavioral mutants identified in an ENU-mutagenesis project.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Article
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Authors and funding
9 authors at 4 institutions in 4 countries.
Funding
Abstract
One of the advantages of N-ethyl- N-nitrosourea (ENU)-induced mutagenesis is that, after randomly causing point mutations, a variety of alleles can be generated in genes leading to diverse phenotypes. For example, transcription factor AP-2alpha ( Tcfap2a) null homozygote mice show a large spectrum of developmental defects, among them missing middle ear bones and tympanic ring. This is the usual occurrence, where mutations causing middle ear anomalies usually coincide with other abnormalities. Using ENU-induced mutagenesis, we discovered a new dominant Tcfap2a mutant named Doarad ( Dor) that has a missense mutation in the PY motif of its transactivation domain, leading to a misshapen malleus, incus, and stapes without any other observable phenotype. Dor homozygous mice die perinatally, showing prominent abnormal facial structures and ocular defects. In vitro assays suggest that this mutation causes a "gain of function" in the transcriptional activation of AP-2alpha. These mice enable us to address more specifically the developmental role of Tcfap2a in the eye and middle ear and are the first report of a mutation in a gene specifically causing middle ear abnormalities, leading to conductive hearing loss.
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