In an ENU mutagenesis screen, a de novo T->A transversion at nucleotide 1033 of the coding region occurred, creating a phenylalanine to isoleucine change at residue 345. (J:117494)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count