CRISPR guides introduced a TGT to CGT nucleotide substitutions in exon 5 that results in the amino acid substitution of arginine for cysteine at positione 284 (C284R). This allele mimics the human 'risk' variant for juvenile idiopathic arthritis and early-onset Crohn's disease. (J:244365)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count