Exons 1 to 3 were deleted and a neo cassette was inserted into exon 4. The absence of protein expression was confirmed by western blot analysis on brain extracts. (J:148711, J:219075)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count