Bate palmas mutant mice as a model of Kabuki syndrome: Higher susceptibility to infections and vocalization impairments?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of neuroscience research"
DOI: 10.1002/jnr.25050
Abstract: The recessive mutant mouse bate palmas (bapa) arose from N-ethyl-N-nitrosourea mutagenesis. Previous studies of our group revealed some behavioral impairments and a mutation in the lysine (K)-specific methyltransferase 2D (Kmt2d) gene. Because mutations in the… read more here.
Keywords: bapa mice; kabuki syndrome; model kabuki; mice ... See more keywords
Behavioural impairments in a mouse model of Kabuki syndrome associated with dopaminergic and neuroinflammatory modulations
Sign Up to like & getrecommendations! Published in 2025 at "Acta Neuropsychiatrica"
DOI: 10.1017/neu.2025.17
Abstract: Abstract Objective: Kabuki syndrome is a rare multisystem congenital disorder characterised by specific facial malformations and several other symptoms, including motor impairments, increased susceptibility to infections, immune mediators’ deficits, anxiety, and stereotyped behaviours. Considering the… read more here.
Keywords: kabuki syndrome; stereotyped behaviour; model kabuki;