biostudies-literatureWickramasekara RNNational Institute of General Medical SciencesNIGMS NIH HHS1554-1571https://www.ebi.ac.uk/biostudies/studies/S-EPMC8328928biostudies-literatureUnknown14(8)Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders (NDDs), specifically, autism spectrum disorder (ASD) and intellectual disability (ID); yet, its role in the brain is not known. The goal of this work was to neurodevelopmentally characterize the effect(s) of KMT5B haploinsufficiency using a mouse model. A Kmt5b gene-trap mouse line was obtained from the Knockout Mouse Project. Wild type (WT) and heterozygous (HET) mice were subjected to a comprehensive neurodevelopmental test battery to assess reflexes, motor behavior, learning/memory, social behavior, repetitive movement, and common ASD comorbidities (obsessive compulsion, depression, and anxiety). Given the strong sex bias observed in the ASD patient populaAutism research : official journal of the International Society for Autism ResearchDifferential effects by sex with Kmt5b loss.PMC8328928P30 GM110768GM110768Stessman HAFRobertson BWickramasekara RNHallgren JHulen JfalseDifferential effects by sex with Kmt5b loss.Lysine methyl transferase 5B (KMT5B) has been recently highlighted as a risk gene in genetic studies of neurodevelopmental disorders (NDDs), specifically, autism spectrum disorder (ASD) and intellectual disability (ID); yet, its role in the brain is not known. The goal of this work was to neurodevelopmentally characterize the effect(s) of KMT5B haploinsufficiency using a mouse model. A Kmt5b gene-trap mouse line was obtained from the Knockout Mouse Project. Wild type (WT) and heterozygous (HET) mice were subjected to a comprehensive neurodevelopmental test battery to assess reflexes, motor behavior, learning/memory, social behavior, repetitive movement, and common ASD comorbidities (obsessive compulsion, depression, and anxiety). Given the strong sex bias observed in the ASD patient popula2021-01-01T00:00:00Z2021 Aug2025-04-04T10:45:28.295Z2025-04-04T10:45:28.295ZS-EPMC83289283387118010.1002/aur.2516