Slc39a8^em1Jome
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc39a8^em1Jome
• Name: solute carrier family 39 (metal ion transporter), member 8; endonuclease-mediated mutation 1, Joanna Melia
• MGI ID: MGI:7628727
• Synonyms: Zip8 393T-KI
• Gene: Slc39a8 Location: Chr3:135531040-135594333 bp, + strand Genetic Position: Chr3, 63.04 cM
• Alliance: Slc39a8^em1Jome page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Alanine codon 393 (GCT) in exon 8 was changed to threonine (ACT) (p.A393T) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation is the equivalent of the human p.A391T mutation (SNP rs13107325) associated with increased risk of schizophrenia, Crohns disease, obesity, dyslipidemia, and scoliosis. (J:301814)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Slc39a8 Mutation: 46 strains or lines available

References

• Original: J:301814 Sunuwar L, et al., Pleiotropic ZIP8 A391T implicates abnormal manganese homeostasis in complex human disease. JCI Insight. 2020 Oct 15;5(20)
• All: 2 reference(s)