serval:BIB_FA3FDDAE1B36
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
10.1093/hmg/ddn148
000257963000008
18469339
Molina
J.
author
Carmona-Mora
P.
author
Chrast
J.
author
Krall
P.M.
author
Canales
C.P.
author
Lupski
J.R.
author
Reymond
A.
author
Walz
K.
author
article
2008
Human Molecular Genetics
1460-2083[electronic]
journal
17
16
2486-2495
The Potocki-Lupski syndrome (PTLS) is associated with a microduplication of 17p11.2. Clinical features include multiple congenital and neurobehavioral abnormalities and autistic features. We have generated a PTLS mouse model, Dp(11)17/+, that recapitulates some of the physical and neurobehavioral phenotypes present in patients. Here, we investigated the social behavior and gene expression pattern of this mouse model in a pure C57BL/6-Tyr(c-Brd) genetic background. Dp(11)17/+ male mice displayed normal home-cage behavior but increased anxiety and increased dominant behavior in specific tests. A subtle impairment in the preference for a social target versus an inanimate target and abnormal preference for social novelty (the preference to explore an unfamiliar mouse versus a familiar one) was also observed. Our results indicate that these animals could provide a valuable model to identify the specific gene(s) that confer abnormal social behaviors and that map within this delimited genomic deletion interval. In a first attempt to identify candidate genes and for elucidating the mechanisms of regulation of these important phenotypes, we directly assessed the relative transcription of genes within and around this genomic interval. In this mouse model, we found that candidates genes include not only most of the duplicated genes, but also normal-copy genes that flank the engineered interval; both categories of genes showed altered expression levels in the hippocampus of Dp(11)17/+ mice.
Animals
Autistic Disorder/genetics
Autistic Disorder/physiopathology
Behavior, Animal
Brain/growth & development
Disease Models, Animal
Female
Gene Expression
Gene Expression Profiling
Humans
Male
Mice
Mice, Inbred C57BL
Organ Size
Phenotype
Species Specificity
eng
60_published
true
peer-reviewed
University of Lausanne
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