Tm6sf2^em2Yech
Endonuclease-mediated Allele Detail

Summary

• Symbol: Tm6sf2^em2Yech
• Name: transmembrane 6 superfamily member 2; endonuclease-mediated mutation 2, Y Eugene Chen
• MGI ID: MGI:6833850
• Synonyms: Tm6sf2^E167K
• Gene: Tm6sf2 Location: Chr8:70525574-70532716 bp, + strand Genetic Position: Chr8, 34.15 cM
• Alliance: Tm6sf2^em2Yech page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced a G to A point mutation to produce the amino acid substitution of glutamic acid to lysine at position 167 (E167K). This mutation is analogous to the C to T variant (rs58542926-T) identified in human patients with cardiometabolic diseases. (J:314590)

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 Tm6sf2 Mutation: 37 strains or lines available

References

• Original: J:314590 Fan Y, et al., Type 2 diabetes sex-specific effects associated with E167K coding variant in TM6SF2. iScience. 2021 Nov 19;24(11):103196
• All: 1 reference(s)