A construct containing a 32-kb BST11071 restriction fragment including the human gene with 7 kb of upstream and 11 kb of downstream sequence, and containing the human functional upstream promoter polymorphism, -463GA (G allele) was used to create transgenic mice. This polymorphism is contained within a conserved sequence recognized by various nuclear receptors. Only one founder mouse was obtained. (J:130052)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count