The HS5 enhancer element in conserved non-coding sequence 2 (CNS-2) was replaced with a loxP site flanked neomycin resistance gene cassette that was subsequently removed by cre-mediated recombination. (J:129048)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count