{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Wickramasekara RN"],"funding":["National Institute of General Medical Sciences","NIGMS NIH HHS"],"pagination":["1554-1571"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8328928"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(8)"],"pubmed_abstract":["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 popula"],"journal":["Autism research : official journal of the International Society for Autism Research"],"pubmed_title":["Differential effects by sex with Kmt5b loss."],"pmcid":["PMC8328928"],"funding_grant_id":["P30 GM110768","GM110768"],"pubmed_authors":["Stessman HAF","Robertson B","Wickramasekara RN","Hallgren J","Hulen J"],"additional_accession":[]},"is_claimable":false,"name":"Differential effects by sex with Kmt5b loss.","description":"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 popula","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2025-04-04T10:45:28.295Z","creation":"2025-04-04T10:45:28.295Z"},"accession":"S-EPMC8328928","cross_references":{"pubmed":["33871180"],"doi":["10.1002/aur.2516"]}}