This mutation, identified in an ENU mutagenesis screen, is an adenine to thymine transversion in exon 10 at position 1220 resulting in a lysine to isoleucine substitution at position 407. This mutation is within the tubby domain. (J:284006)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count