Ins2^tm2.1Jfer
Targeted Allele Detail

Summary

• Symbol: Ins2^tm2.1Jfer
• Name: insulin II; targeted mutation 2.1, Jorge Ferrer
• MGI ID: MGI:6731075
• Synonyms: HIP^KI-C331G
• Gene: Ins2 Location: Chr7:142232393-142233463 bp, - strand Genetic Position: Chr7, 88.0 cM
• Alliance: Ins2^tm2.1Jfer page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:308553
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence, Reporter)
• Mutations: Insertion, Intergenic deletion
• Mutation details: Approximately 3.1 kb of upstream sequence was replaced with the equivalent region upstream of the human insulin gene but with a -331C>G mutation (relative to the translation start site) that disrupts a CC dinucleotide and that is found in some diabetes patients. IRES sequence and an EGFP reporter gene cassette were inserted into the 3' UTR. The loxP site flanked neomycin resistance gene cassette that was also inserted was removed through subsequent cre-mediated recombination. In this allele the mutated human INS promoter fails to drive expression of the mouse Ins2 gene and the EGFP reporter. (J:308553)

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 Ins2 Mutation: 90 strains or lines available

References

• Original: J:308553 Akerman I, et al., Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene. Cell Rep. 2021 Apr 13;35(2):108981
• All: 1 reference(s)