Sequence analysis identifies this allele as an insertion of a transposable element in exon 2. The out-of-frame insertion produces a stop codon after synthesis of 32 amino acids. Immunofluorescent staining using an antibody directed to the C terminal of the subunit protein indicates that it is not expressed in the inner or outer plexiform layers of the retina. (J:123811)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count