ENU mutagenesis induced a G to A point mutation that results in the amino acid substitution of isoleucine for methionine at position 200 (M200I). RT-PCR confirmed reduced transcript expression. (J:209662)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count