The mutation in the R542 mouse was identified as an A-to-G substitution at coding nucleotide position 1516 (c.1516A>G), replacing a lysine residue with a glutamic acid at postion 506 (p.K506E). The lysine residue is part of the putative 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