Ontology highlight
ABSTRACT:
SUBMITTER: Kleiner S
PROVIDER: S-EPMC6094147 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Kleiner Sandra S Gomez Daniel D Megra Bezawit B Na Erqian E Bhavsar Ramandeep R Cavino Katie K Xin Yurong Y Rojas Jose J Dominguez-Gutierrez Giselle G Zambrowicz Brian B Carrat Gaelle G Chabosseau Pauline P Hu Ming M Murphy Andrew J AJ Yancopoulos George D GD Rutter Guy A GA Gromada Jesper J
Proceedings of the National Academy of Sciences of the United States of America 20180723 32
<i>SLC30A8</i> encodes a zinc transporter that is primarily expressed in the pancreatic islets of Langerhans. In β-cells it transports zinc into insulin-containing secretory granules. Loss-of-function (LOF) mutations in <i>SLC30A8</i> protect against type 2 diabetes in humans. In this study, we generated a knockin mouse model carrying one of the most common human LOF mutations for <i>SLC30A8</i>, R138X. The R138X mice had normal body weight, glucose tolerance, and pancreatic β-cell mass. Interes ...[more]