ENU mutagenesis induced an A to G substitution in exon 5 resulting in the amino acid substitution of glycine for aspartic acid at position 121 (D121G). Western blot analysis confirmed protein expression similar to wild-type mice. (J:196547)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count