Insr^em1Hobb
Endonuclease-mediated Allele Detail

Summary

• Symbol: Insr^em1Hobb
• Name: insulin receptor; endonuclease-mediated mutation 1, Helen H Hobbs
• MGI ID: MGI:7356367
• Synonyms: Insr^Y1345H
• Gene: Insr Location: Chr8:3200922-3329649 bp, - strand Genetic Position: Chr8, 1.82 cM
• Alliance: Insr^em1Hobb page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a thymine to cytosine change at position 4033 (c.4033T>C) resulting in the substitution of histidine for tyrosine at residue 1345 (p.Y1345H). This corresponds to the Y1355H missense variant identified in a family with fatty liver disease. (J:330003)

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 Insr Mutation: 95 strains or lines available

References

• Original: J:330003 Luo F, et al., Missense variant in insulin receptor (Y1355H) segregates in family with fatty liver disease. Mol Metab. 2021 Nov;53:101299
• All: 1 reference(s)