Exons 11 and 12, which includes the sequence for the intracellular region, were replaced with a complex sequence including a cDNA fragment encoding only the first half of the cytoplasmic signaling domain, an SV40 polyadenylation site, and a floxed PGK-neomycin cassette. Western blot analysis demonstrated that the resulting protein product had been modified to a size consistent with a 60 amino acid deletion. (J:87416)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count