A G-to-A mutation was introduced in exon 4 to change arginine codon 172 (AGG) to lysine (AAG) (p.R172K) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 5. This mutation is associated with myeloid and lymphoid malignancies when found in conjunction with mutations in other genes. (J:322711)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count