Replacement of the last exon, encoding a large portion of the catalytic domain, with a neomycin cassette. mRNA was not detected in mutant mouse liver as assayed by Northern blot analysis, and no protein could be detected by Western blot analysis of plasma. (J:43590)
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