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Series GSE66468 Query DataSets for GSE66468
Status Public on Nov 18, 2015
Title Opposite phenotypic effects and genetic dosage in mouse models of 16p11.2 deletion and duplication syndromes
Organism Mus musculus
Experiment type Expression profiling by array
Summary The 16p11.2 deletion and duplication syndromes have been associated with developmental delay and autism spectrum disorders, and a reciprocal effect on body mass index. Here we explored these links with new engineered mouse models carrying a deletion (Del/+) and duplication (Dup/+) of the whole 16p11.2 homologous Sult1a1-Spn region. On a pure genetic background, compared to wild-types, Del/+ mice carrying the deletion showed weight and adipogenesis deficits, hyperactivity, repetitive behaviors, and recognition memory deficits, whereas Dup/+ mice showed the opposite phenotypes and Del/Dup individuals displayed no changes. Alterations in social interaction were also observed in Del/+ and Dup/+ animals on a mixed genetic background.
Transcriptomic analysis revealed that the majority of genes located on the Sult1a1-Spn were dosage-sensitive and potentially implicated in the opposite phenotypes described above on the neurocognitive aspect. Nevertheless, the outcome of the 16p11 region genetic dosage on metabolism depends on different genetic contributions between human and mouse.
 
Overall design We did transcriptomic analysis of animals carrying rearrangements for the 16p11.2 homologous region after behavioral characterisation.
 
Contributor(s) Arbogast T, Herault Y
Citation(s) 26872257
Submission date Mar 03, 2015
Last update date Mar 08, 2018
Contact name Yann HERAULT
E-mail(s) herault@igbmc.fr
Organization name IGBMC/PHENOMIN-ICS
Street address 1 rue Laurent Fries
City ILLKIRCH
ZIP/Postal code 67404
Country France
 
Platforms (1)
GPL17400 [MoGene-2_1-st] Affymetrix Mouse Gene 2.1 ST Array [transcript (gene) version]
Samples (56)
GSM1622991 Cerebellum deletion carrier, A888_01_C26
GSM1622992 Cerebellum wildtype, A888_02_C10
GSM1622994 Cerebellum duplication carrier, A888_03_C47
Relations
BioProject PRJNA277022

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE66468_RAW.tar 280.8 Mb (http)(custom) TAR (of CEL)
Processed data included within Sample table
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