Ontology highlight
ABSTRACT:
SUBMITTER: Portmann T
PROVIDER: S-EPMC4251471 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Portmann Thomas T Yang Mu M Mao Rong R Panagiotakos Georgia G Ellegood Jacob J Dolen Gul G Bader Patrick L PL Grueter Brad A BA Goold Carleton C Fisher Elaine E Clifford Katherine K Rengarajan Pavitra P Kalikhman David D Loureiro Darren D Saw Nay L NL Zhengqui Zhou Z Miller Michael A MA Lerch Jason P JP Henkelman Mark M Shamloo Mehrdad M Malenka Robert C RC Crawley Jacqueline N JN Dolmetsch Ricardo E RE
Cell reports 20140501 4
A deletion on human chromosome 16p11.2 is associated with autism spectrum disorders. We deleted the syntenic region on mouse chromosome 7F3. MRI and high-throughput single-cell transcriptomics revealed anatomical and cellular abnormalities, particularly in cortex and striatum of juvenile mutant mice (16p11(+/-)). We found elevated numbers of striatal medium spiny neurons (MSNs) expressing the dopamine D2 receptor (Drd2(+)) and fewer dopamine-sensitive (Drd1(+)) neurons in deep layers of cortex. ...[more]