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Mapping quantitative trait loci for hearing loss in Black Swiss mice.

Hearing research | 2006

In common inbred mouse strains, hearing loss is a highly prevalent quantitative trait, which is mainly controlled by the Cdh23(753A) variant and alleles at numerous other strain-specific loci. Here, we investigated the genetic basis of hearing loss in non-inbred strains. Mice of Swiss Webster, CF-1, NIH Swiss, ICR, and Black Swiss strains exhibited hearing profiles characteristic of progressive, sensorineural hearing impairment. In particular, CF-1, Black Swiss, and NIH Swiss mice showed early-onset hearing impairment, ICR and Swiss Webster mice expressed a delayed-onset hearing loss, and NMRI mice had normal hearing. By quantitative trait locus (QTL) mapping, two significant QTLs were identified underlying hearing loss in Black Swiss mice: one QTL mapped to chromosome (chr) 10 (named ahl5, LOD 8.9, peak association 35-42 cM) and a second QTL localized to chr 18 (ahl6, LOD 3.8, 38-44 cM). Ahl5 and ahl6 account for 61% and 32% of the variation in the backcross, respectively. Cadherin 23 (Cdh23) and protocadherin 15 (Pcdh15), mapping within the 95% confidence interval of ahl5, bear nucleotide polymorphisms in coding exons, but these appear to be unrelated to the hearing phenotype. Haplotype analyses across the Cdh23 locus demonstrated the phylogenetic relationship between Black Swiss and common inbred strains.

Pubmed ID: 16426780 RIS Download

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Associated grants

  • Agency: Intramural NIH HHS, United States

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Sequencher (tool)

RRID:SCR_001528

Software for Next-Generation DNA sequencing, Sanger DNA analysis, and RNA sequencing. It contains sequence analysis tools which include reference-guided alignments, de novo assembly, variant calling, and SNP analyses. It has integrated the Cufflinks suite for in-depth transcript analysis and differential gene expression of RNA-Seq data.

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Mouse Genome Informatics (MGI) (tool)

RRID:SCR_006460

International database for laboratory mouse. Data offered by The Jackson Laboratory includes information on integrated genetic, genomic, and biological data. MGI creates and maintains integrated representation of mouse genetic, genomic, expression, and phenotype data and develops reference data set and consensus data views, synthesizes comparative genomic data between mouse and other mammals, maintains set of links and collaborations with other bioinformatics resources, develops and supports analysis and data submission tools, and provides technical support for database users. Projects contributing to this resource are: Mouse Genome Database (MGD) Project, Gene Expression Database (GXD) Project, Mouse Tumor Biology (MTB) Database Project, Gene Ontology (GO) Project at MGI, and MouseCyc Project at MGI.

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