Cre mediated recombination removed exon 5, exon 6, and the beta-geo cassette. The predicted protein product is expected to lack several conserved motifs in the Dot1L catalytic domain, including the SAM-binding motif and motifs X, I, and II. (J:161427)
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