Gene gap repair was used to duplicate exon 2 and inserted a neo cassette between the two copies of exon 2. The absence of protein expression was confirmed by western blot analysis on brain extracts. (J:145944)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count