ENU mutagenesis induced a T to G point mutation in exon 8 that results in the amino acid substitution of leucine with arginine at position 310 (p.L310R or p.L285R on mature peptide). (J:223500)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count