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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N
Endonuclease-mediated
Nucleotide substitutions
--
1
3
7

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

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PMID
Journal
Year
IF
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