Exons 7 and 8 were replaced with a neomycin selection cassette. The absence of protein expression was confirmed by western blot analysis on liver extracts using antibody to the C-terminal part of the protein. Subsequent studies showed that an N-terminal portion of the protein containing the UBL domain was still present, possibly the product of a splice variant of the gene not affected by the mutation, or because of incomplete nonsense-mediated mRNA decay (NMD). (J:158069, J:334038)
Basic Information
(C57BL/6NCrlj x CBA/JNCrlj)F1
Insertion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count