Neurodevelopmental malformations of the cerebellum and neocortex in the Shank3 and Cntnap2 mouse models of autism

• Published in: Neuroscience letters 2021-11, Vol.765, p.136257-136257, Article 136257
• Main Authors: Otazu, Gonzalo H., Li, Yan, Lodato, Zachary, Elnasher, Adel, Keever, Katherine M., Li, Ying, Ramos, Raddy L.
• Format: Article
• Language: English
• Subjects: Animals; Autistic Disorder - genetics; C57BL/6; Cerebellum - abnormalities; Cerebellum - pathology; Cntnap2; Disease Models, Animal; Female; Heterotopia; Heterozygote; Humans; Male; Malformations of Cortical Development, Group II - genetics; Malformations of Cortical Development, Group II - pathology; Membrane Proteins - genetics; Mice; Mice, Inbred C57BL - genetics; Mice, Knockout; Microfilament Proteins - genetics; Mouse models; Neocortex - abnormalities; Neocortex - pathology; Nerve Tissue Proteins - genetics; Neuronal migration; Shank3
• ISSN: 0304-3940; 1872-7972
• DOI: 10.1016/j.neulet.2021.136257

•Cntnap2 and Shank3 mice exhibit neocortical and cerebellar malformations.•Malformations are characterized by glio-neuronal heterotopia.•Malformations in Cntnap2 and Shank3 mice are due to the C57BL/6 background. There are many mouse models of autism with broad use in neuroscience research. Genetic background can be a major contributor to the phenotype observed in any mouse model of disease, including genetic models of autism. C57BL/6 mice display spontaneous glio-neuronal heterotopia in the cerebellar vermis and neocortex which may also exist in mouse models of autism created on this background. In the present report, we document the presence of cerebellar and neocortical heterotopia in heterozygous and KO Shank3 and Cntnap2 mice which are due to the C57BL/6 genotype and discuss the role these malformations may play in research using these genetic models of autism.