A targeting vector containing a neomycin resistance (neo) cassette was used to replace exon 8. Analysis by RT-PCR reveals that a truncated coding sequence is transcribed. Catalytic activity of ACER3 is markedly decreased, but not completely abolished. (J:228886)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count