The transgenic construct contains a mouse Dmp1 promoter, including 8kb of the 5' flanking region, the first exon, the first intron, and 17 bp of exon 2, followed by a modified human PTHR1 gene, and a rabbit beta-globin polyA sequence. PTHR1 contains a histidine to arginine substitution at residue 223 (H223R or c.668A>G); the substitution results in constitutively active expression of PTHR1. (J:140592)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count