ArticleGenome biology2011
Exome sequencing identifies a missense mutation in Isl1 associated with low penetrance otitis media in dearisch mice.
Article in Genome biology, 2011. 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, 26 citations in OpenAlex.
- Association of ISL1 polymorphisms and eosinophilic levels among otitis media patients.Journal of clinical laboratory analysis · 2021Article
- 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
- Identification of a Novel ENU-Induced Mutation in MouseNeural plasticity · 2016Article
- Ectopic Mineralization and Conductive Hearing Loss in Enpp1asj Mutant Mice, a New Model for Otitis Media and Tympanosclerosis.PloS one · 2016Article
- A defect in early myogenesis causes Otitis media in two mouse models of 22q11.2 Deletion Syndrome.Human molecular genetics · 2015Article
- A strategy to identify dominant point mutant modifiers of a quantitative trait.G3 (Bethesda, Md.) · 2014Article
- What have we learned from murine models of otitis media?Current allergy and asthma reports · 2013Review
- Multi-allelic phenotyping--a systematic approach for the simultaneous analysis of multiple induced mutations.Methods (San Diego, Calif.) · 2013Article
- Going forward with genetics: recent technological advances and forward genetics in mice.The American journal of pathology · 2013Review
- Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.Mammalian genome : official journal of the International Mammalian Genome Society · 2013Article
- Article
- Exon capture and bulk segregant analysis: rapid discovery of causative mutations using high-throughput sequencing.BMC genomics · 2012Article
- High throughput sequencing approaches to mutation discovery in the mouse.Mammalian genome : official journal of the International Mammalian Genome Society · 2012Review
- Microarray-based capture of novel expressed cell type-specific transfrags (CoNECT) to annotate tissue-specific transcription in Drosophila melanogaster.G3 (Bethesda, Md.) · 2012Article
- Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse.G3 (Bethesda, Md.) · 2012Article
- Mutanlallemand (mtl) and Belly Spot and Deafness (bsd) are two new mutations of Lmx1a causing severe cochlear and vestibular defects.PloS one · 2012Article
- Modifier genes and the plasticity of genetic networks in mice.PLoS genetics · 2012Review
- The exome factor.Genome biology · 2011Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundInflammation of the middle ear (otitis media) is very common and can lead to serious complications if not resolved. Genetic studies suggest an inherited component, but few of the genes that contribute to this condition are known. Mouse mutants have contributed significantly to the identification of genes predisposing to otitis media
resultsThe dearisch mouse mutant is an ENU-induced mutant detected by its impaired Preyer reflex (ear flick in response to sound). Auditory brainstem responses revealed raised thresholds from as early as three weeks old. Pedigree analysis suggested a dominant but partially penetrant mode of inheritance. The middle ear of dearisch mutants shows a thickened mucosa and cellular effusion suggesting chronic otitis media with effusion with superimposed acute infection. The inner ear, including the sensory hair cells, appears normal. Due to the low penetrance of the phenotype, normal backcross mapping of the mutation was not possible. Exome sequencing was therefore employed to identify a non-conservative tyrosine to cysteine (Y71C) missense mutation in the Islet1 gene, Isl1(Drsh). Isl1 is expressed in the normal middle ear mucosa. The findings suggest the Isl1(Drsh) mutation is likely to predispose carriers to otitis media.
conclusionsDearisch, Isl1(Drsh), represents the first point mutation in the mouse Isl1 gene and suggests a previously unrecognized role for this gene. It is also the first recorded exome sequencing of the C3HeB/FeJ background relevant to many ENU-induced mutants. Most importantly, the power of exome resequencing to identify ENU-induced mutations without a mapped gene locus is illustrated.
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