Stat1^tm1.1Hko
Targeted Allele Detail

Summary

• Symbol: Stat1^tm1.1Hko
• Name: signal transducer and activator of transcription 1; targeted mutation 1.1, Haruhiko Koseki
• MGI ID: MGI:7279191
• Synonyms: GOF-Stat1^R274Q, Stat1^R274Q
• Gene: Stat1 Location: Chr1:52158599-52201024 bp, + strand Genetic Position: Chr1, 26.81 cM
• Alliance: Stat1^tm1.1Hko page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:324282
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: BAC RP23-361H17 was mutagenized to change arginine codon 274 (CGT) in exon 10 to glutamine (CAG) (p.R274Q) and used to replace the endogenous gene via homologous recombination. The loxP site flanked neomycin resistance gene cassette that was inserted into intron 10 was removed through subsequent cre-mediated recombination. The mutation mimics the gain-of-function mutation found in chronic mucocutaneous candidiasis (CMC) patients. (J:324282)

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:324282 Tamaura M, et al., Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice. Int Immunol. 2020 Apr 12;32(4):259-272
• All: 1 reference(s)