The mutation in the R96 mouse was identified as a T-to-A nonsense mutation at coding nucleotide position 381 (c.381T>A), changing tyrosine codon 127 to a stop codon (p.Y127*). The resulting protein, if produced, would be truncated, lacking most of the relevant feature of NADPH oxidases and would be non-functional. (J:89010)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count