| http://purl.uniprot.org/citations/26636018 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26636018 | http://www.w3.org/2000/01/rdf-schema#comment | "Approximately 10 % of the population worldwide suffers from hearing loss (HL) and about 60 % of persons with early onset HL have hereditary hearing loss due to genetic mutations. Highly efficient mutagenesis in mice with the chemical mutagen, ethylnitrosourea (ENU), associated with relevant phenotypic tools represents a powerful approach in producing mouse models for hearing impairment. A benefit of this strategy is to generate alleles to form a series revealing the full spectrum of gene function in vivo. It can also mimic the range of human mutations and polymorphisms for HL. In the course of a genome ENU mutagenesis program, we selected a new mouse model for hearing defect based on a dysmorphological screen. We identified by gene mapping the mutation responsible for this phenotype and characterized it at the histological level of the inner ear and evaluated the vestibule by following the recommendations of the standard operating procedures, IMPReSS. We have identified and characterized a new recessive allele of the otogelin gene, Otog (vbd/vbd) , due to a homozygous one base pair substitution at the splice donor site of intron 29. This mutation leads to a frame-shift and a premature stop codon. We observed a decrease in the amount of sensory cells in the maculae of Otog (vbd/vbd) mice as well as an apparent drastically decreased density to almost absence of the otoconial membrane. Compared to Otog (tm1Prs) and twister, the two other existing otogelin alleles, the detailed analysis of Otog (vbd/vbd) revealed that these mice share some common behavioural characteristics either with Otog (tm1Prs) or twister whereas the fine vestibular phenotype and the hearing defect are different. Our results emphasize the importance of detecting and characterizing a new allele of a gene in order to get comprehensive information about the gene function."xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.org/dc/terms/identifier | "doi:10.1186/s40064-015-1537-y"xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/author | "Blanquet V."xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/author | "Magnol L."xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/author | "El Hakam Kamareddin C."xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/name | "Springerplus"xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/pages | "730"xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/title | "A new Otogelin ENU mouse model for autosomal-recessive nonsyndromic moderate hearing impairment."xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://purl.uniprot.org/core/volume | "4"xsd:string |
| http://purl.uniprot.org/citations/26636018 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26636018 |
| http://purl.uniprot.org/citations/26636018 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26636018 |
| http://purl.uniprot.org/uniprot/#_A0A1B0GSE0-mappedCitation-26636018 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26636018 |
| http://purl.uniprot.org/uniprot/#_O55225-mappedCitation-26636018 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26636018 |
| http://purl.uniprot.org/uniprot/O55225 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/26636018 |
| http://purl.uniprot.org/uniprot/A0A1B0GSE0 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/26636018 |