The gene trap vector pGT2LxF, which contains a beta-geo cassette, inserted downstream of exon 20. The predicted fusion protein, containing amino acids 1 through 693, lacks the PDZ domain found in the C-terminus of the endogenous protein. The expression of the fusion protein lacking the PDZ domain was confirmed by western blot analysis on brain extracts. (J:149996)
Basic Information
Insertion of gene trap vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count