ENU mutagenesis induced a G to T mutation in exon 4 which results in the amino acid substitution of glutamic acid with aspartic acid at position 115 (p.E115D). This is the equivalent of the human p.E112D mutation. (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count