This allele was identified in a screen for a metabolic and haematopoietic phenotype described as hypochromic, microcytic anemia associated with erythrocytosis using ENU-treated C57BL/6J males (G0). Sequencing identified a G to T substitution, resulting in a E1121X (changing glutamic acid to a termination codon) mutation in the Ube2o gene. The mutation causes truncation of the C-terminal 168 amino acids and is a loss-of-function mutation. No gene product (protein) is detected by western blot analysis of blood. (J:243727)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Nucleotide substitutions
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1
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1

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

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PMID
Journal
Year
IF
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