CRISPR/Cas9 technology generated a cysteine to alanine substitution at amino acid 195 [previously residue187 (C187A)] resulting in a Cys195-oxidation-defective redox-dead Slc31a1 mutant mice. This corresponds to the human C189A. (J:321043)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count