Stat1^em1Iva
Endonuclease-mediated Allele Detail

Summary

• Symbol: Stat1^em1Iva
• Name: signal transducer and activator of transcription 1; endonuclease-mediated mutation 1, Zhenya Ivakine
• MGI ID: MGI:7620443
• Synonyms: stat1^t385m
• Gene: Stat1 Location: Chr1:52158599-52201024 bp, + strand Genetic Position: Chr1, 26.81 cM
• Alliance: Stat1^em1Iva page

Mutation origin

• Strain of Origin: CD-1 x C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Threonine codon 385 (ACG) in exon 14 was changed to methionine (ATG) (p.T385M) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, in the DNA-binding domain (DBD) of the encoded peptide, is the equivalent of the same human mutation (the most common DBD mutation), which is associated with autoimmunity and increased susceptibility to infection. (J:346984)

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 Stat1 Mutation: 72 strains or lines available

References

• Original: J:346984 Scott O, et al., The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice. Front Immunol. 2023;14:1183273
• All: 1 reference(s)