Transcriptomics

Dataset Information

0

RNA-seq analysis of Scn1a +/- mouse


ABSTRACT: In this study we recapitulated in the mouse, an SCN1A mutation found in a human Dravet syndrome (DS) patient. The targeted mutation, NC_000068.7:g.66293870C>G (GRCm38.p6) lies in a highly conserved alternate poison exon (20N) of the mouse Scn1a. We performed molecular and behavioral analysis of Scn1a +/- mice and Scn1a +/+ littermate controls. We found that the mutation causes Scn1a mRNA and protein levels to be reduced by about 50% in brain compared to control mice. In addition, the Scn1a +/- mice exhibit behavioral phenotypes seen in previous DS model mice models. We performed qPCR and RNA-seq analysis of the brains of four Scn1a +/- mice and four Scn1a +/+ littermate controls. There was a ~50% reduction in Scn1a RNA-seq counts in Scn1a +/- mice. Our data provides evidence that the mutation causes increased inclusion of the poison exon 20N in Scn1a transcripts leading to nonsense mediated decay and reduction in protein levels.

ORGANISM(S): Mus musculus

PROVIDER: GSE153461 | GEO | 2020/08/01

REPOSITORIES: GEO

Dataset's files

Source:
Action DRS
Other
Items per page:
1 - 1 of 1

Similar Datasets

2024-10-25 | GSE280241 | GEO
2014-01-04 | E-GEOD-43312 | biostudies-arrayexpress
2021-11-29 | GSE171191 | GEO
2019-03-05 | GSE111436 | GEO
2021-03-26 | GSE169481 | GEO
2021-03-26 | GSE169485 | GEO
2014-01-04 | GSE43312 | GEO
2018-10-26 | GSE112627 | GEO
| PRJNA718610 | ENA
| PRJNA391353 | ENA