Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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MJAY analysis of vestibular macula RNA obtained from Bronx waltzer and control mice.


ABSTRACT: The spontaneous mutant Bronx waltzer (bv) mouse line is characterized by deafness and balance defect. We located the bv mutation to the Srrm4 gene which encodes a regulator of alternative pre-mRNA splicing. We found that Srrm4 is expressed in balance and hearing organs (i.e. in the vestibular maculas and the cochlea). Srrm4 is also expressed in the central nervous system including the cerebellum. To identify potential splicing defects in bv/bv mice, we analyzed RNA samples from the vestibular maculas and cerebellums of bv/bv mice and control (bv/+) littermates, using mouse exon junction microarrays (MJAY). In this dataset, we include probe-set level data obtained from vestibular macula samples. The processed data represent probe-set intensities that have been normalized to gene expression levels (Inorm). Inorm was calculated using batch-corrected data as well as data that were not corrected for a batch effect. 7 total samples were analyzed: vestibular maculas from 4 heterozygous (bv/+) and 3 homozygous (bv/bv) mouse embryos at E16.5.

ORGANISM(S): Mus musculus

SUBMITTER: Botond Banfi 

PROVIDER: E-GEOD-33590 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse.

Nakano Yoko Y   Jahan Israt I   Bonde Gregory G   Sun Xingshen X   Hildebrand Michael S MS   Engelhardt John F JF   Smith Richard J H RJ   Cornell Robert A RA   Fritzsch Bernd B   Bánfi Botond B  

PLoS genetics 20121004 10


Sensory hair cells are essential for hearing and balance. Their development from epithelial precursors has been extensively characterized with respect to transcriptional regulation, but not in terms of posttranscriptional influences. Here we report on the identification and functional characterization of an alternative-splicing regulator whose inactivation is responsible for defective hair-cell development, deafness, and impaired balance in the spontaneous mutant Bronx waltzer (bv) mouse. We use  ...[more]

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