The mutation in the het-2J mouse was identified as a G-to-A substitution at coding nucleotide position 1222 (c.1222G>A), replacing a glycine residue with an arginine at position 408 (p.G408R). The glycine residue is highly conserved and is part of an NADPH binding site. (J:89010)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count