Slc39a8^tm1.1Xav
Targeted Allele Detail

Summary

• Symbol: Slc39a8^tm1.1Xav
• Name: solute carrier family 39 (metal ion transporter), member 8; targeted mutation 1.1, Ramnik Xavier
• MGI ID: MGI:7411298
• Synonyms: Slc39a8 A391T
• Gene: Slc39a8 Location: Chr3:135531040-135594333 bp, + strand Genetic Position: Chr3, 63.04 cM
• Alliance: Slc39a8^tm1.1Xav page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:299683
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: An alanine to threonine substitution at amino acid 393 (p.A393T) was introduced in exon 8 along with an FRT-flanked neomycin resistance cassette 290 bp downstream of exon 8. The neomycin resistance cassette was removed via flp-mediated recombination. The A393T corresponds to human A391T missense variant that is associated with a variety of traits ranging from Parkinsons disease and neuropsychiatric disease to cardiovascular and metabolic diseases and Crohns disease. (J:299683)

Expression

In Mice Carrying this Mutation:

1 RNA-Seq or microarray experiment(s)

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: 44 strains or lines available

References

• Original: J:299683 Nakata T, et al., A missense variant in SLC39A8 confers risk for Crohn's disease by disrupting manganese homeostasis and intestinal barrier integrity. Proc Natl Acad Sci U S A. 2020 Nov 17;117(46):28930-28938
• All: 2 reference(s)