The transgene consists a mouse cDNA of Fgfr3 which harbors a dominant mutation found in human achondroplasia (G380R). This sequence is fused to human growth hormone gene with a deletion in exon 5 to provide additional splice and polyadenylation sites.Expression of the transgene is targeted to cartilage tissue by promoter and enhancer sequences derived from rat type II collagen gene. (J:50292)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count