Ontology highlight
ABSTRACT:
SUBMITTER: Sunuwar L
PROVIDER: S-EPMC7605523 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Sunuwar Laxmi L Frkatović Azra A Sharapov Sodbo S Wang Qinchuan Q Neu Heather M HM Wu Xinqun X Haritunians Talin T Wan Fengyi F Michel Sarah S Wu Shaoguang S Donowitz Mark M McGovern Dermot D Lauc Gordan G Sears Cynthia C Melia Joanna J
JCI insight 20201015 20
ZIP8 is a metal transporter with a role in manganese (Mn) homeostasis. A common genetic variant in ZIP8 (rs13107325; A391T) ranks in the top 10 of pleiotropic SNPs identified in GWAS; A391T has associations with an increased risk of schizophrenia, obesity, Crohn's disease, and reduced blood Mn. Here, we used CRISPR/Cas9-mediated knockin (KI) to generate a mouse model of ZIP8 A391T (Zip8 393T-KI mice). Recapitulating the SNP association with blood Mn, blood Mn was reduced in Zip8 393T-KI mice. Th ...[more]