A targeting vector was designed to replace exons 2-4, which encode the entire N-terminal, PDZ and a part of the C-terminal domain, with a neomycin resistance gene. Expression was not detected by Western blot of mutant brain lysates. (J:111724)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count