Exon 1, which contains the ATG start codon, was replaced with a neomycin resistance cassette. Southern blotting confirmed correct targeting of ES cells. Immunoblot analysis on heterozygote liver extracts indicated protein expression was reduced by more than half, confirming gene inactivation. (J:140627)
Basic Information
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count