Article
A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice.
Disease models & mechanisms - 30 Oct 2020
Abdelhamed Zakia, Lukacs Marshall, Cindric Sandra, Ali Saima, Omran Heymut, Stottmann Rolf W
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 many of the hallmark phenotypes of PCD. Whole-exome sequencing identified this primary ciliary dyskinesia only (Pcdo) allele to be a...
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