A cassette containing, a floxed IRES-neo/STOP cassette followed by an IRES and human GNAS with nucleotide substitutions that result in the amino acid subsitution of cysteine for arginine at position 201 (R201C), was inserted downstream of the coding sequence in exon 7. This mutation produces a constitutively active protein. (J:168378)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count