A floxed hygromycin resistance/STOP cassette was inserted upstream of a modified coding exon in which an A to T transversion results in the amino acid substitution of lysine for glutamine at position 66 (Q66L). (J:194401)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count