ENU mutagenesis induced a T to C transition in exon 2 that results in the amino acid substitution of proline for serine at position 47 (S47P). (J:171541)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count