Article

A novel hypomorphic allele of <i>Spag17</i> causes primary ciliary dyskinesia phenotypes in mice

2020-04-08

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a human condition of dysfunctional motile cilia characterized by recurrent lung infection, infertility, organ laterality defects, and partially penetrant hydrocephalus. We recovered a mouse mutant from a forward genetic screen that developed all the phenotypes of PCD. Whole exome sequencing identified this primary ciliary dyskinesia only (Pcdo) allele to be a nonsense mutation...

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Literature Corpus work: 6f66bd24-2dfe-5e0c-b57c-b30adfba89f5
DOI: 10.1101/2020.04.08.031393

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