Tbc1d1^tm2.1Schen
Targeted Allele Detail

Summary

• Symbol: Tbc1d1^tm2.1Schen
• Name: TBC1 domain family, member 1; targeted mutation 2.1, Shuai Chen
• MGI ID: MGI:5824227
• Synonyms: TBC1D1^Ser231Ala
• Gene: Tbc1d1 Location: Chr5:64313648-64508829 bp, + strand Genetic Position: Chr5, 32.8 cM
• Alliance: Tbc1d1^tm2.1Schen page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:234284
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 4 was targeted with (a) point mutation(s) resulting in an S231A codon change. A loxP site and an FRT site flanked neomycin resistance gene cassette were inserted into intron 3 and a further loxP site into intron 4. The neo cassette was removed through flp-mediated recombination. This leaves modified exon 4 floxed. The codon change prevents phosphorylation of amino-acid 231 in the translated peptide. (J:234284)

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 Tbc1d1 Mutation: 79 strains or lines available

References

• Original: J:234284 Chen L, et al., Disruption of the AMPK-TBC1D1 nexus increases lipogenic gene expression and causes obesity in mice via promoting IGF1 secretion. Proc Natl Acad Sci U S A. 2016 Jun 28;113(26):7219-24
• All: 3 reference(s)