ENU mutagenesis induced an G to T transition in exon 63 that resulted in a premature termination codon. The presence of a truncated protein lacking the C-terminal RING finger domain was confirmed by western blot analysis. (J:132726)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(BALB/c x C57BL/6)F1 X DBA/2J
Chemically induced
Single point
Recessive
1
--
3

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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