An IRES-EGFP-pA cassette was inserted into exon 2. Mutants failed to express either long or short isoforms of protein as shown by Western blot analysis. (J:107709)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count