Exon 13 was replaced with one in which a G to T mutation results in an amino acid substitution of phenylalanine for valine at position 617 (V617F). An FRT flanked neo cassette downstream of the modified exon was removed by flp mediated recombination. (J:163497)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count