Sting1^em1Psou
Endonuclease-mediated Allele Detail

Summary

• Symbol: Sting1^em1Psou
• Name: stimulator of interferon response cGAMP interactor 1; endonuclease-mediated mutation 1, Pauline Soulas-Sprauel
• MGI ID: MGI:7647023
• Synonyms: STING V154M
• Gene: Sting1 Location: Chr18:35866732-35873607 bp, - strand Genetic Position: Chr18, 19.23 cM, cytoband B3
• Alliance: Sting1^em1Psou page

Mutation origin

• Strain of Origin: C57BL/6NJ

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Valine codon 154 (GTT) in exon 5 was changed to methionine (ATG) (p.) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation, located in the dimerization domain (DD) of the encoded peptide, is the equivalent of the human p.V155M mutation associated with STING-associated vasculopathy with onset in infancy (SAVI). (J:347228)

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: 51 strains or lines available

References

• Original: J:347228 Bouis D, et al., Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice. J Allergy Clin Immunol. 2019 Feb;143(2):712-725.e5
• All: 2 reference(s)