bEMS223, a modified BAC from the RPCI-11 library containing the human NR2E1 gene with a single-base pair candidate regulatory variant, an A to G change at position g.-2945 was inserted into the Hprt1 locus. This newly modified BAC is termed bEMS116. (J:267111)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count