ENU mutagenesis induced two point mutations (c.4370T>A and c.5323A>G) that result in the amino acid substitutions of isoleucine with asparagine at position 1457 (p.I1457N) and threonine with alanine at position 1775 (p.T1775A). (J:234901)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count