CRISPR-targeting inserted the mouse promoter driving liver-specific expression of the human gene coding sequence with a mutation that results in the amino acid substitution of valine with methionine at position 50 (V50M). A luciferase reporter gene was also inserted into the locus. (J:293217)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count