A neomycin resistance cassette replaced a 2.1 kb segment of the gene, which included exons 2, 3, and 4, encompassing the amino terminal region of the protein. In addition, the insertion produced a frameshift of exons 1 and 5. (J:55580)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count