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Allele : Slc39a8<em1Pfi> solute carrier family 39 (metal ion transporter), member 8; endonuclease-mediated mutation 1, Pfizer, Ltd

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.
  • mutations:
  • Single point mutation
  • synonyms:
  • Slc39a8<A391T>,
  • Slc39a8<A391T>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

2 Publication categories

Trail: Allele