ENU mutagenesis induced a T to G point mutation in exon 17 that results in the amino acid substitution of serine for isoleucine at position 1023 (I1023S) in the tenth transmembrane domain. (J:199859)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count