Slc39a8^em1Pfi

CRISPR/Cas9 technology generated a G to A point mutation resulting in a threonine substitution for alanine at amino acid 391 (A391T) in exon 8. The A391T variant has been identified in 8% of people with European ancestry and is reported to encode a protein with reduced function. GWAS studies indicate that A391T mutation may be associated with hypertension. (J:101977)