{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Collinson JM"],"funding":["Fundação para a Ciência e a Tecnologia","Medical Research Council","British Society for Developmental Biology","Anatomical Society"],"pagination":["dev160093"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5818009"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["145(3)"],"pubmed_abstract":["Genetic factors underlying the human limb abnormality congenital talipes equinovarus ('clubfoot') remain incompletely understood. The spontaneous autosomal recessive mouse 'peroneal muscular atrophy' mutant (PMA) is a faithful morphological model of human clubfoot. In PMA mice, the dorsal (peroneal) branches of the sciatic nerves are absent. In this study, the primary developmental defect was identified as a reduced growth of sciatic nerve lateral motor column (LMC) neurons leading to failure to project to dorsal (peroneal) lower limb muscle blocks. The <i>pma</i> mutation was mapped and a candidate gene encoding LIM-domain kinase 1 (<i>Limk1</i>) identified, which is upregulated in mutant lateral LMC motor neurons. Genetic and molecular analyses showed that the mutation acts in the EphA4-"],"journal":["Development (Cambridge, England)"],"pubmed_title":["The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse."],"pmcid":["PMC5818009"],"funding_grant_id":["G0800901","87379"],"pubmed_authors":["Lindstrom NO","Wallace K","Oras K","Ross ZK","Vargesson N","Nakamoto M","Mbogo I","Duce S","Miedzybrodzka Z","Collinson JM","Fraser AM","Neves C","Meharg C","Barker S","Charles RH"],"additional_accession":[]},"is_claimable":false,"name":"The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.","description":"Genetic factors underlying the human limb abnormality congenital talipes equinovarus ('clubfoot') remain incompletely understood. The spontaneous autosomal recessive mouse 'peroneal muscular atrophy' mutant (PMA) is a faithful morphological model of human clubfoot. In PMA mice, the dorsal (peroneal) branches of the sciatic nerves are absent. In this study, the primary developmental defect was identified as a reduced growth of sciatic nerve lateral motor column (LMC) neurons leading to failure to project to dorsal (peroneal) lower limb muscle blocks. The <i>pma</i> mutation was mapped and a candidate gene encoding LIM-domain kinase 1 (<i>Limk1</i>) identified, which is upregulated in mutant lateral LMC motor neurons. Genetic and molecular analyses showed that the mutation acts in the EphA4-","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Feb","modification":"2026-06-07T06:44:32.169Z","creation":"2019-03-26T23:48:51Z"},"accession":"S-EPMC5818009","cross_references":{"pubmed":["29439133"],"doi":["10.1242/dev.160093"]}}