Exon 15 was replaced with a floxed neo/STOP cassette and a modified exon 15 in which a C to A transversion (C1789A) results in the amino acid substitution of valine for leucine at position 597 (L579V). (J:187371)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count