The molecular lesion is described as a 6-base pair deletion and 1 base pair insertion (T) at 2970 (no reference sequence given). Western blot analysis confirmed the complete loss of protein in brain lysates from knockout mice. (J:288382)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count