A PGK-beta-geo (beta-galactosidase-neomycin fusion gene) selection cassette was inserted into exon 2, disrupting the first ATG that gives rise to the long isoform. RT-PCR indicates enhanced mRNA expression of the short isoform (which uses an ATG in exon 4) and disrupted expression of the long isoform. (J:233160)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count