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The spontaneous autosomal recessive mouse \u2018peroneal muscular atrophy\u2019 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 pma mutation was mapped and a candidate gene encoding LIM-domain kinase 1 (Limk1) identified, which is upregulated in mutant lateral LMC motor neurons. Genetic and molecular analyses showed that the mutation acts in the EphA4\u2013Limk1\u2013Cfl1\/cofilin\u2013actin pathway to modulate growth cone extension\/collapse. In the chicken, both experimental upregulation of Limk1 by electroporation and pharmacological inhibition of actin turnover led to defects in hindlimb spinal motor neuron growth and pathfinding, and mimicked the clubfoot phenotype. The data support a neuromuscular aetiology for clubfoot and provide a mechanistic framework to understand clubfoot in humans.<\/jats:p>","DOI":"10.1242\/dev.160093","type":"journal-article","created":{"date-parts":[[2018,2,12]],"date-time":"2018-02-12T16:07:33Z","timestamp":1518451653000},"source":"Crossref","is-referenced-by-count":17,"title":["The developmental and genetic basis of \u2018clubfoot\u2019 in the peroneal muscular atrophy mutant mouse"],"prefix":"10.1242","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8111-475X","authenticated-orcid":false,"given":"J. 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