A neomycin resistance gene replaced exon 3, which encodes the translation initiation site, the cytoplasmic domain, and the transmembrane domain of the encoded protein. Immunoblot analysis detected markedly reduced expression of alpha, beta and delta subunits and complete lack of the gamma subunit. (J:102780)
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