The targeting vector is designed to insert an FRT-flanked neomycin resistance (neo) cassette downstream of exon 5 of the gene. Exon 6 was modified to harbor mutation (R231H) equivalent to the most common alternative allelic variant of Sting found in humans (R232H). Flp-mediated recombination removed the FRT-flanked neo cassette. (J:331747)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count