This mutation, discovered in an ENU mutagenesis screen for behavioral phenotypes, is a missense mutation in exon 5 that results in substitution of serine for cysteine at amino acid 358. (J:121578)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count