Stat1^tm1.1Shwj
Targeted Allele Detail

Summary

• Symbol: Stat1^tm1.1Shwj
• Name: signal transducer and activator of transcription 1; targeted mutation 1.1, Shaun W Jackson
• MGI ID: MGI:7520580
• Synonyms: Stat1^GOF
• Gene: Stat1 Location: Chr1:52158599-52201024 bp, + strand Genetic Position: Chr1, 26.81 cM
• Alliance: Stat1^tm1.1Shwj page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:338134
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence)
• Mutation: Insertion
• Mutation details: A loxP site was inserted into intron 9 and an FRT site flanked neomycin resistance gene cassette, an mloxP site, an inverted and mutated copy of exon 10, a second loxP site and a second mloxP site were inserted into intron 10. Only after Cre-mediated recombination, when the mutated exon 10 inverts and replaces the wildtype exon through specific recombination between the two loxP sites and the two mloxP sites, will the mutated transcript and peptide be expressed. The mutation involved changing arginine codon 274 (CGT) to glutamine (CAA) (p.R274Q), which replicates the same human mutation found in autosomal dominant chronic mucocutaneous candidiasis (CMCC) patients. The neo cassette was removed through subsequent Flp-mediated recombination. (J:338134)

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: 73 strains or lines available

Notes

Generated by BioCytogen

References

• Original: J:338134 Largent AD, et al., Dysregulated IFN-gamma signals promote autoimmunity in STAT1 gain-of-function syndrome. Sci Transl Med. 2023 Jul 5;15(703):eade7028
• All: 1 reference(s)