ArticlePloS one2013
Hearing loss in a mouse model of 22q11.2 Deletion Syndrome.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 33 citations in OpenAlex.
- Strong connections of locally clustered neurons in the upper-layer cortex underlie schizophrenia-related auditory deviance detection.Science advances · 2026Article
- Highly demarcated structural alterations in the brain and impaired social incentive learning in Tbx1 heterozygous mice.Molecular psychiatry · 2025Article
- Auditory evoked-potential abnormalities in a mouse model of 22q11.2 Deletion Syndrome and their interactions with hearing impairment.Translational psychiatry · 2025Article
- The acoustic startle response in 22q11 deletion syndrome: from animal models to humans.Frontiers in neuroscience · 2025Review
- Review
- Increased Central Auditory Gain and Decreased Parvalbumin-Positive Cortical Interneuron Density in theBiological psychiatry global open science · 2023Article
- Two novel mouse models mimicking minor deletions in 22q11.2 deletion syndrome revealed the contribution of each deleted region to psychiatric disorders.Molecular brain · 2021Article
- Comprehensive analysis of a novel mouse model of the 22q11.2 deletion syndrome: a model with the most common 3.0-Mb deletion at the human 22q11.2 locus.Translational psychiatry · 2020Article
- TBX1 is required for normal stria vascularis and semicircular canal development.Developmental biology · 2020Article
- A mouse model of 22q11.2 deletions: Molecular and behavioral signatures of Parkinson's disease and schizophrenia.Science advances · 2018Article
- Anatomic Malformations of the Middle and Inner Ear in 22q11.2 Deletion Syndrome: Case Series and Literature Review.AJNR. American journal of neuroradiology · 2018Review
- The impact of biological sex on the response to noise and otoprotective therapies against acoustic injury in mice.Biology of sex differences · 2018Article
- Mapping the distribution of stem/progenitor cells across the mouse middle ear during homeostasis and inflammation.Development (Cambridge, England) · 2018Article
- Understanding the aetiology and resolution of chronic otitis media from animal and human studies.Disease models & mechanisms · 2017Review
- Panel 3: Genetics and Precision Medicine of Otitis Media.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2017Review
- Otologic and audiologic findings in 22q11.2 deletion syndrome.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2017Article
- Persistent gating deficit and increased sensitivity to NMDA receptor antagonism after puberty in a new mouse model of the human 22q11.2 microdeletion syndrome: a study in male mice.Journal of psychiatry & neuroscience : JPN · 2017Article
- Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.Progress in neurobiology · 2015Review
- A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Human molecular genetics · 2015Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
22q11.2 Deletion Syndrome (22q11DS) arises from an interstitial chromosomal microdeletion encompassing at least 30 genes. This disorder is one of the most significant known cytogenetic risk factors for schizophrenia, and can also cause heart abnormalities, cognitive deficits, hearing difficulties, and a variety of other medical problems. The Df1/+ hemizygous knockout mouse, a model for human 22q11DS, recapitulates many of the deficits observed in the human syndrome including heart defects, impaired memory, and abnormal auditory sensorimotor gating. Here we show that Df1/+ mice, like human 22q11DS patients, have substantial rates of hearing loss arising from chronic middle ear infection. Auditory brainstem response (ABR) measurements revealed significant elevation of click-response thresholds in 48% of Df1/+ mice, often in only one ear. Anatomical and histological analysis of the middle ear demonstrated no gross structural abnormalities, but frequent signs of otitis media (OM, chronic inflammation of the middle ear), including excessive effusion and thickened mucosa. In mice for which both in vivo ABR thresholds and post mortem middle-ear histology were obtained, the severity of signs of OM correlated directly with the level of hearing impairment. These results suggest that abnormal auditory sensorimotor gating previously reported in mouse models of 22q11DS could arise from abnormalities in auditory processing. Furthermore, the findings indicate that Df1/+ mice are an excellent model for increased risk of OM in human 22q11DS patients. Given the frequently monaural nature of OM in Df1/+ mice, these animals could also be a powerful tool for investigating the interplay between genetic and environmental causes of OM.
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