A neomycin resistance cassette replaced 1.3 kb of the coding sequence in exon 5, which comprises 70% of the coding sequence. Western blot analysis confirmed the absence of protein expression in the brain. (J:194336)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count