ArticleMammalian genome : official journal of the International Mammalian Genome Society2002
ENU mutagenesis reveals a highly mutable locus on mouse Chromosome 4 that affects ear morphogenesis.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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25 citing papers in PubMed, 47 citations in OpenAlex.
- Expression of nestin, parvalbumin and otoferlin during cochlear development in the mouse: an immunofluorescence study.European journal of histochemistry : EJH · 2025Article
- Morphological and sensorimotor phenotypes in a zebrafish CHARGE syndrome model are domain-dependent.Genes, brain, and behavior · 2023Article
- CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.Nature communications · 2022Article
- SOX2 is required for inner ear growth and cochlear nonsensory formation before sensory development.Development (Cambridge, England) · 2019Article
- Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.Molecular and cellular neurosciences · 2018Review
- Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
- Epigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration.Frontiers in cellular neuroscience · 2014Review
- Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.Hearing research · 2011Article
- Inner ear dysfunction in caspase-3 deficient mice.BMC neuroscience · 2011Article
- Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.Nature genetics · 2011Article
- Chromodomain proteins in development: lessons from CHARGE syndrome.Clinical genetics · 2010Review
- Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice.The Journal of clinical investigation · 2009Article
- A novel mutation in Prph2, a gene regulated by Nr2e3, causes retinal degeneration and outer-segment defects similar to Nr2e3 ( rd7/rd7 ) retinas.Mammalian genome : official journal of the International Mammalian Genome Society · 2008Article
- Otoconin-90 deletion leads to imbalance but normal hearing: a comparison with other otoconia mutants.Neuroscience · 2008Article
- Bilateral posterior semicircular canal aplasia and atypical paroxysmal positional vertigo: a case report.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2008Article
- Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Review
- Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues.Mammalian genome : official journal of the International Mammalian Genome Society · 2007Article
- Planar relationships of the semicircular canals in two strains of mice.Journal of the Association for Research in Otolaryngology : JARO · 2006Article
- A comparison of vestibular and auditory phenotypes in inbred mouse strains.Brain research · 2006Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Chemical mutagenesis followed by screening for abnormal phenotypes in the mouse holds much promise as a method for revealing gene function. This method is particularly well-suited for discovering genes involved in hearing or balance function, as these defects are relatively easy to screen for in the mouse. We report here the inner ear abnormalities and genetic localization of seven new dominant mutations created by ENU mutagenesis. All seven mutant stocks were identified because of circling and/or head-weaving behavior, which is an indication of balance dysfunction. Investigation of the inner ears of the seven mutant stocks revealed very similar lateral and posterior semicircular canal defects. Studies of the development of the canals in one mutant stock revealed that the affected canals showed reduced outgrowth and delayed canal fusion. Physiological studies performed in one mutant stock showed raised average compound-action-potential thresholds of approximately 10-20 dB sound pressure level (SPL) (depending on frequency), indicating a mild hearing impairment, although scanning electron microscopy performed in several of the mutant stocks revealed no obvious structural defects in the organ of Corti. All seven mutations mapped to the proximal portion of Chromosome (Chr) 4, near the centromere. On the basis of their similar phenotype and map location, we suggest that the seven mutant genes may be allelic and represent a highly mutable locus on Chr 4 that may be particularly susceptible to ENU-induced mutation on the BALB/c genetic background.
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