ENU mutagenesis resulted in an A to G transition in exon 6 that results in the amino acid substitution of argininge for histidine at position 327 (H327R). (J:256276)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count