Tbc1d4^tm1.1Schen
Targeted Allele Detail

Summary

• Symbol: Tbc1d4^tm1.1Schen
• Name: TBC1 domain family, member 4; targeted mutation 1.1, Shuai Chen
• MGI ID: MGI:6111819
• Synonyms: AS160^R917K
• Gene: Tbc1d4 Location: Chr14:101679796-101846627 bp, - strand Genetic Position: Chr14, 50.9 cM
• Alliance: Tbc1d4^tm1.1Schen page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:246944
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: The 917 codon (according to NP_001074747.2, and equivalent to Arg973 on human AS160) was mutated to express a lysine residue instead of arginine in order to inactivate the GAP function of the encoded protein. A loxP-flanked neomycin selection cassette that was placed next to the mutated exon was removed in the final allele. (J:246944)

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 Tbc1d4 Mutation: 50 strains or lines available

References

• Original: J:246944 Xie B, et al., The Inactivation of RabGAP Function of AS160 Promotes Lysosomal Degradation of GLUT4 and Causes Postprandial Hyperglycemia and Hyperinsulinemia. Diabetes. 2016 Nov;65(11):3327-3340
• All: 1 reference(s)