Ontology highlight
ABSTRACT:
ORGANISM(S): Mus musculus
SUBMITTER: MGU microarray
PROVIDER: E-MEXP-1873 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Human molecular genetics 20090704 19
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 including neuromuscular junction degeneration, polyneuronal innervation and myopath ...[more]