Neuroanatomical Phenotypes Are Consistent With Autism-Like Behavioral Phenotypes in the 15q11-13 Duplication Mouse Model.
In 15q11-13 duplication autism models, only paternal duplication produces both behavioral rigidity and smaller dentate gyrus/medial striatum.
01Research in Context
What this study did
Ellegood et al. (2015) looked at mice with an extra copy of chromosome 15q11-13.
Some mice got the extra copy from dad. Others got it from mom.
The team watched how the mice acted and then measured brain region sizes.
What they found
Only the dad-copy mice showed rigid, autism-like behaviors.
These same mice had a smaller dentate gyrus and medial striatum.
Mom-copy mice acted normal and kept standard brain sizes.
How this fits with other research
Shields et al. (2013) studied kids with the same extra 15q11-13 piece.
Every child in that paper got the extra copy from mom and still had autism.
The two papers seem opposite until you learn parent-of-origin rules: mom copy causes autism in people, dad copy causes both brain and behavior changes in mice.
Ellegood et al. (2011) used MRI to show smaller white-matter volumes in another autism mouse model, proving this brain-shrinking pattern repeats across different genes.
Quesnel et al. (2026) also saw male-only brain shrinkage in their ATRX model, matching the male bias seen here.
Why it matters
If you assess a child with 15q11-13 duplication, ask the geneticist which parent passed the extra copy. A maternal copy flags clear autism risk, while a paternal copy may predict motor or learning quirks tied to smaller striatum and dentate gyrus. Track play and flexibility skills closely in paternal-duplication cases; these may be your first real-world markers.
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02At a glance
03Original 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.
Autism research : official journal of the International Society for Autism Research, 2015 · doi:10.1002/aur.1469