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

ABSTRACT: This SuperSeries is composed of the SubSeries listed below.

OTHER RELATED OMICS DATASETS IN: PRJNA154337PRJNA148555PRJNA154335

ORGANISM(S): Mus musculus

PROVIDER: GSE33591 | GEO | 2012/10/21

SECONDARY ACCESSION(S): PRJNA148555

REPOSITORIES: GEO

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

Project description: Not available

| S-EPMC3464207 | biostudies-literature

A mutation in the Srrm4 gene causes pre-mRNA splicing defects and deafness in Bronx waltzer mice.

Project description: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 cerebellar samples. The processed data represent probe-set intensities that have been normalized to gene expression levels. 8 total samples were analyzed in this series: cerebellums from 4 heterozygous (bv/+) and 4 homozygous (bv/bv) mice at P15.

2012-10-21 | E-GEOD-33589 | biostudies-arrayexpress

A mutation in the Srrm4 gene causes pre-mRNA splicing defects and deafness in Bronx waltzer mice.

2012-10-21 | GSE33589 | GEO

Defects in the alternative splicing-dependent regulation of REST cause deafness

Project description:This SuperSeries is composed of the SubSeries listed below.

2018-06-28 | GSE111606 | GEO