Slc39a8^em1Pfi
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc39a8^em1Pfi
• Name: solute carrier family 39 (metal ion transporter), member 8; endonuclease-mediated mutation 1, Pfizer, Ltd
• MGI ID: MGI:6153154
• Synonyms: Slc39a8^A391T
• Gene: Slc39a8 Location: Chr3:135531040-135594333 bp, + strand Genetic Position: Chr3, 63.04 cM
• Alliance: Slc39a8^em1Pfi page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: 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)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Slc39a8 Mutation: 43 strains or lines available

References

• Original: J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017
• All: 1 reference(s)