{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Aguilar C"],"funding":["Medical Research Council","Royal Society","Wellcome Trust","Biotechnology and Biological Sciences Research Council"],"pagination":["110170"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11225360"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(7)"],"pubmed_abstract":["Despite some evidence indicating diverse roles of whirlin in neurons, the functional corollary of whirlin gene function and behavior has not been investigated or broadly characterized. A single nucleotide variant was identified from our recessive ENU-mutagenesis screen at a donor-splice site in whirlin, a protein critical for proper sensorineural hearing function. The mutation (<i>head-bob</i>, <i>hb</i>) led to partial intron-retention causing a frameshift and introducing a premature termination codon. Mutant mice had a head-bobbing phenotype and significant hyperactivity across several phenotyping tests. Lack of complementation of <i>head-bob</i> with <i>whirler</i> mutant mice confirmed the <i>head-bob</i> mutation as functionally distinct with compound mutants having a mild-moderate he"],"journal":["iScience"],"pubmed_title":["Pleiotropic brain function of whirlin identified by a novel mutation."],"pmcid":["PMC11225360"],"funding_grant_id":["MC U142684175","MC_PC_U127561112","MC U142661184","BB/X000567/1","MC_UP_1503/2","MC_UP_2201/2","090532/Z/09/Z","A410-53658","G0900747 91070","102892/Z/13/Z"],"pubmed_authors":["Corns LF","Potter PK","Wells S","Simon M","Williams J","Johnson SL","Williams D","Gillard S","Starbuck B","Atkins G","Oliveri S","Concas D","Kumar S","Bardhan T","Aguilar C","Blake A","Banks G","Marcotti W","Sethi S","Kurapati R","Haynes AR","Lad HV","Bains RS","Parker A","Heise I","Mburu P","Hutchison M","Tateossian H","Vikhe P","Jeng JY"],"additional_accession":[]},"is_claimable":false,"name":"Pleiotropic brain function of whirlin identified by a novel mutation.","description":"Despite some evidence indicating diverse roles of whirlin in neurons, the functional corollary of whirlin gene function and behavior has not been investigated or broadly characterized. A single nucleotide variant was identified from our recessive ENU-mutagenesis screen at a donor-splice site in whirlin, a protein critical for proper sensorineural hearing function. The mutation (<i>head-bob</i>, <i>hb</i>) led to partial intron-retention causing a frameshift and introducing a premature termination codon. Mutant mice had a head-bobbing phenotype and significant hyperactivity across several phenotyping tests. Lack of complementation of <i>head-bob</i> with <i>whirler</i> mutant mice confirmed the <i>head-bob</i> mutation as functionally distinct with compound mutants having a mild-moderate he","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jul","modification":"2026-06-01T16:17:16.017Z","creation":"2026-04-08T13:59:48.939Z"},"accession":"S-EPMC11225360","cross_references":{"pubmed":["38974964"],"doi":["10.1016/j.isci.2024.110170"]}}