Format

Send to

Choose Destination
Autism Res. 2015 Oct;8(5):545-55. doi: 10.1002/aur.1469. Epub 2015 Mar 7.

Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model.

Author information

1
Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario Canada (J.E., R.M.H., J.L.).
2
RIKEN Brain Science Institute, Wako, Saiama, Japan (N.N., T.T.).
3
Shiga University of Medical Science, Ohtsu, Shiga, Japan (J.N.).
4
Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada (R.M.H., J.L.).
5
JST, CREST(T.T.).

Abstract

Paternally and maternally inherited deletions and duplications of human chromosome 15q11-13 are relatively common in the human population. Furthermore, duplications in the 15q region are often associated with autism. Both maternal and paternal interstitial 15q11-13 duplication mouse models have been previously created, where several behavioral differences were found in the paternal duplication (patDp/+) mouse but not in the maternal duplication (matDp/+). These included decreased sociability, behavioral inflexibility, abnormal ultrasonic vocalizations, decreased spontaneous activity, and increased anxiety. Similarly, in the current study, we found several anatomical differences in the patDp/+ mice that were not seen in the matDp/+ mice. Regional differences that are evident only in the paternal duplication are a smaller dentate gyrus and smaller medial striatum. These differences may be responsible for the behavioral inflexibility. Furthermore, a smaller dorsal raphe nucleus could be responsible for the reported serotonin defects. This study highlights consistency that can be found between behavioral and anatomical phenotyping.

KEYWORDS:

15q11-13 duplication; animal models; copy number variation; molecular genetics; neuroanatomy; structural MRI

PMID:
25755142
DOI:
10.1002/aur.1469
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center