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Resequencing_of_a_2_7Mb_region_of_chromosome_5_of_a_deaf_mouse_mutant_strain_. Resequencing_of_a_2_7Mb_region_of_chromosome_5_of_a_deaf_mouse_mutant_strain_

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NIAID Data Ecosystem2026-03-09 收录
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Deafness is the most common sensory deficit in the human population, but the genetic basis for nonsyndromic hearing loss is still largely unknown. Deaf mouse mutants are a powerful tool for discovering genes which affect hearing and characterising the pathways which, when perturbed, result in dysfunction of the ear. Bronx waltzer is a spontaneous autosomal recessive mutant which has been previously described (Deol and Gluecksohn-Waelsch, 1979). Homozygotes demonstrate rapid degeneration of vestibular hair cells and cochlear inner hair cells at a late embryonic stage, resulting in deafness and vestibular dysfunction, but outer hair cells remain intact (Whitlon et al, 1996, Cheong and Steel, 2002). The mutation has been mapped to a 2.7Mb region on chromosome 5, but exon resequencing has failed to find a potential causative mutation (Bussoli et al, 1997, Taylor, 2005). We have carried out Illumina paired-end sequencing of the entire region, both coding and non-coding sequences, in order to locate candidates.

创建时间:
2014-11-12
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