This ENU induced mutation has been identified as a T-to-C transition in exon 12, at nucleotide position 2620 of the cDNA sequence, resulting in replacement of glutamine by arginine at amino acid position 784 of the protein (Q784R). (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count