ENU mutagenesis induced a T to C point mutation in exon 8 that produces the amino acid substitution of isoleucine with threonine at position 282 (I282T). (J:250420)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count