title: Divergence and inheritance of neocortical heterotopia in inbred and genetically-engineered mice.
abstract: Cortical function emerges from the intrinsic properties of neocortical neurons and their synaptic connections within and across lamina. Neurodevelopmental disorders affecting migration and lamination of the neocortex result in cognitive delay/disability and epilepsy. Molecular layer heterotopia (MLH), a dysplasia characterized by over-migration of neurons into layer I, are associated with cognitive deficits and neuronal hyperexcitability in humans and mice. The breadth of different inbred mouse strains that exhibit MLH and inheritance patterns of heterotopia remain unknown. A neuroanatomical survey of numerous different inbred mouse strains, 2 first filial generation (F1) hybrids, and one consomic strain (C57BL/6J-Chr 1A/J/NaJ) revealed MLH only in C57BL/6 mice and the consomic strain. Heterotopia were observed in numerous genetically-engineered mouse lines on a congenic C57BL/6 background. These data indicate that heterotopia formation is a weakly penetrant trait requiring homozygosity of one or more C57BL/6 alleles outside of chromosome 1. These data are relevant toward understanding neocortical development and disorders affecting neocortical lamination.
authors.affiliation: Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY 11568, United States.
authors.forename: Alyssa R
authors.initials: AR
authors.lastname: Toia
authors.affiliation: Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY 11568, United States.
authors.forename: Joshua A
authors.initials: JA
authors.lastname: Cuoco
authors.affiliation: Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY 11568, United States.
authors.forename: Anthony W
authors.initials: AW
authors.lastname: Esposito
authors.affiliation: Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY 11568, United States.
authors.forename: Jawad
authors.initials: J
authors.lastname: Ahsan
authors.affiliation: Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY 11568, United States.
authors.forename: Alok
authors.initials: A
authors.lastname: Joshi
authors.affiliation: Wadsworth Center, New York State Department of Health, Albany, NY, 12208, United States; Department of Biomedical Sciences, School of Public Health, State University of New York at Albany, Albany, NY, 12201, United States.
authors.forename: Bruce J
authors.initials: BJ
authors.lastname: Herron
authors.affiliation: Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY 11568, United States.
authors.forename: German
authors.initials: G
authors.lastname: Torres
authors.affiliation: Wadsworth Center, New York State Department of Health, Albany, NY, 12208, United States; Department of Biomedical Sciences, School of Public Health, State University of New York at Albany, Albany, NY, 12201, United States.
authors.forename: Valerie J
authors.initials: VJ
authors.lastname: Bolivar
authors.affiliation: Department of Biomedical Sciences, New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY 11568, United States. Electronic address: rramos02@nyit.edu.
authors.forename: Raddy L
authors.initials: RL
authors.lastname: Ramos
mesh_terms: D000818:Animals; D006720:Homozygote; D054081:Malformations of Cortical Development, Group II / Q000235:genetics* / Q000473:pathology; D008810:Mice, Inbred C57BL; D008815:Mice, Inbred Strains; D008822:Mice, Transgenic; D019579:Neocortex / Q000002:abnormalities*; D019683:Penetrance; D013045:Species Specificity
keywords: C57BL/6; Heterotopia; Malformation; Neocortex