ENU mutagenesis induced a A to G in exon 12 that results in the amino acid substitution of glycine for aspartic acid at position 294 (D294G). This subsitution is located within the eighth N-terminal leucine rich repeat. (J:166053)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count