ENU mutagenesis induced a T to A transversion in exon 8 that results in the amino acid substitution of tyrosine to a premature stop codon at position 275 (Y275X). (J:182054, J:249350)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count