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Article

Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse.

Human molecular genetics - 1 Oct 2009

Mackenzie Francesca E, Romero Rosario, Williams Debbie, Gillingwater Thomas, Hilton Helen, Dick Jim, Riddoch-Contreras Joanna, Wong Frances, Ireson Lisa, Powles-Glover Nicola, Riley Genna, Underhill Peter, Hough Tertius, Arkell Ruth, Greensmith Linda, Ribchester Richard R, Blanco Gonzalo

Abstract excerpt

Following a screen for neuromuscular mouse mutants, we identified ostes, a novel N-ethyl N-nitrosourea-induced mouse mutant with muscle atrophy. Genetic and biochemical evidence shows that upregulation of the novel, uncharacterized transient receptor potential polycystic (TRPP) channel PKD1L2 (polycystic kidney disease gene 1-like 2) underlies this disease. Ostes mice suffer from chronic neuromuscular impairments...

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Identifiers

PMID: 19578180
DOI: 10.1093/hmg/ddp304
PMCID: PMC2742400

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Source receipt: pubmed, retrieved 7 Sept 2026.

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