This spontaneous G-to-A point transition at the last position in exon 8 affects splice donor G-GT by changing it to A-GT. This results in the use of a cryptic splice donor A-GT 28 bp downstream. The resulting 3' extension of exon 8 by 28 bp results in a frameshift. Immunohistochemistry does not detect this protein in the dendritic tips of depolarizing bipolar cells in the retina indicating that this is a null allele. (J:229885)
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cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count