bEMS223, a modified BAC from the RPCI-11 library containing the human NR2E1 gene with a 1924 bp regulatory deletion (g.-1943 to g.-20) was inserted into the Hprt1 locus. The construct also contains the human HPRT complementary sequence containing exon 1, intron 1, exon 2, and part of intron 2. This newly modified BAC is termed bEMS114. (J:267111)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count