A neomycin selection cassette was inserted into exon 8, which encodes the B-domain. RT-PCR and northern blot analysis confirmed that no functional transcript was expressed from this allele. (J:27473)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count