Sting1^em1Jmin
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sting1^em1Jmin
• Name: stimulator of interferon response cGAMP interactor 1; endonuclease-mediated mutation 1, Jonathan Miner
• MGI ID: MGI:6287305
• Synonyms: STING N153S
• Gene: Sting1 Location: Chr18:35866732-35873607 bp, - strand Genetic Position: Chr18, 19.23 cM, cytoband B3
• Alliance: Sting1^em1Jmin page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/cas9 endonuclease-mediated genome editing is used to insert two nucleotide missense mutations in exon 5 of the gene. The mutation results in an amino acid substitution at position 153 altering asparagine to serine (N153S; AAT to TCT). The STING N153S mutation is analogous to the N154S mutation in human TMEM173. N154S is associated with (STING)-associated vasculopathy with onset in infancy (SAVI). (J:251372)

Disease models

Expression

In Mice Carrying this Mutation:	4 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Sting1 Mutation: 49 strains or lines available

References

• Original: J:251372 Warner JD, et al., STING-associated vasculopathy develops independently of IRF3 in mice. J Exp Med. 2017 Nov 6;214(11):3279-3292
• All: 7 reference(s)