A T to A transversion was induced at the start of exon 9 resulting in a nonsense mutation (Tyr269Stop). Western blot analysis indicated absence of protein expression in the brains of homozygous mice. D-serine production assays indicated absence of protein activity in preparations from whole brain, hippocampus, and frontal cortex from homozygous mice. (J:151337)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count