Exon 2 was replaced with a floxed STOP, a neomycin resistance cassette and the corresponding human sequence for exon 2 with 105 CAG repeats. (J:221703)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count