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Series GSE114207 Query DataSets for GSE114207
Status Public on Nov 01, 2018
Title Mice Harboring the Human SLC30A8 R138X Loss-of-Function Mutation Have Increased Insulin Secretory Capacity
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary SLC30A8 encodes a zinc transporter that is primarily expressed in the pancreatic islets of Langerhans. In beta-cells it transports zinc into insulin-containing secretory granules. Loss-of-function (LOF) mutations in SLC30A8 protect against type 2 diabetes in humans. In this study, we generated a mouse model carrying one of the most common human LOF mutations for SLC30A8, R138X. The R138X mice had normal body weight, glucose tolerance and pancreatic beta-cell mass. Interestingly, in hyperglycemic conditions induced by the insulin receptor antagonist S961, the R138X mice showed a 50% increase in insulin secretion. This effect was not associated with enhanced beta-cell proliferation or beta-cell mass. Our data suggest that the SLC30A8 R138X LOF mutation in humans may protect from type 2 diabetes in part by increasing the capacity of beta-cells to secrete insulin.
Overall design Gene expression profiling of SLC30A8 R138X mutation and wild type mice in pancreatic islets
Contributor(s) Kleiner S, Xin Y, Gromada J
Citation(s) 30038024
Submission date May 08, 2018
Last update date Mar 21, 2019
Contact name Yurong Xin
Organization name Regeneron Pharmaceuticals, Inc.
Street address 777 Old Saw Mill River Road
City Tarrytown
State/province NY
ZIP/Postal code 10598
Country USA
Platforms (1)
GPL17021 Illumina HiSeq 2500 (Mus musculus)
Samples (9)
GSM3137803 Wildtype_1
GSM3137804 Wildtype_2
GSM3137805 Wildtype_3
BioProject PRJNA470551
SRA SRP145021

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Supplementary file Size Download File type/resource
GSE114207_gene_rpkm.txt.gz 660.0 Kb (ftp)(http) TXT
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