A floxed neo stop cassette and a modified human cDNA with nucleotide substitutions that results in the amino acid substitution of phenylalanine for valine at position 617 (V617F) were inserted into exon 2. (J:164539)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count