An EGFP cDNA was introduced in frame at the end of exon 4 of the coding region of the gene, removing the receptors stop codon and generating a C-terminally tagged receptor. The GFP-tagged receptor showed membrane expression and functionality similar to the WT receptor. (J:238800)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count