A neo cassette was inserted into exon 6, which encodes part of the SNARE motif. The absence of protein expression was confirmed by western blot analysis on E18.5 brain extracts. (J:169107)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count