A cDNA coding for a protein lacking the C terminal valine within the PDZ domain follwed by a floxed neo casstee was inserted after exon 1. Western blot demonstrated that protein was efficiently expressed at wild-type levels. (J:95885)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count