Primary Identifier | MGI:6153154 | Allele Type | Endonuclease-mediated |
Attribute String | Humanized sequence | Gene | Slc39a8 |
Strain of Origin | C57BL/6NJ | Is Recombinase | false |
Is Wild Type | false |
molecularNote | 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. |