Bate palmas (bapa) mutant mouse, a model of Kabuki syndrome presents behavioral hyperactivity via increased striatal tyrosine hydroxylase expression

Assunto

Background: The recessive mutant mouse bate palmas (bapa) arose from N-ethylN-nitrosourea mutagenesis. Previous studies of our group revealed some behavioral impairment such as motor incoordination and a mutation in the lysine (K)-specific methyltransferase 2D (Kmt2d) gene. Bapa mouse was proposed as a model of Kabuki syndrome because mutations in the KMT2D gene in humans are the main responsible for Kabuki syndrome. Besides other symptoms, Kabuki syndrome is characterized by speech impairments and variable behavioral issues, usually diagnosed in the early childhood. Unfortunately, there is a limitation of the experimental models for Kabuki syndrome. Therefore, the objective of this study was to evaluate oral communication, motor, exploratory, and anxiety-like behaviors, as well as pathophysiological and neurobiological processes involved in the murine model of Kabuki syndrome for a better characterization of the model.