Part of intron 1, all of exon 2 and part of intron 2 have been deleted. A single loxP sequence marks the site where the remaining 5' segment of intron 1 and the 3' segment of intron 2 are joined. (J:103440)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count