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

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(C57BL/6NCrlj x CBA/JNCrlj)F1
Targeted
Insertion, Intragenic deletion
--
1
2
7

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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