Ontology highlight
ABSTRACT:
SUBMITTER: Matteson PG
PROVIDER: S-EPMC2538885 | biostudies-literature | 2008 Feb
REPOSITORIES: biostudies-literature
Matteson Paul G PG Desai Jigar J Korstanje Ron R Lazar Gloria G Borsuk Tanya E TE Rollins Jarod J Kadambi Sindhuja S Joseph Jamie J Rahman Taslima T Wink Jason J Benayed Rym R Paigen Beverly B Millonig James H JH
Proceedings of the National Academy of Sciences of the United States of America 20080204 6
The vacuolated lens (vl) mouse mutant causes congenital cataracts and neural tube defects (NTDs), with the NTDs being caused by abnormal neural fold apposition and fusion. Our positional cloning of vl indicates these phenotypes result from a deletion mutation in an uncharacterized orphan G protein-coupled receptor (GPCR), Gpr161. Gpr161 displays restricted expression to the lateral neural folds, developing lens, retina, limb, and CNS. Characterization of the vl mutation indicates that C-terminal ...[more]