ENU mutagenesis induced a T to C mutation at position c170 in the first exon, resulting in a phenylalanine to serine mutation at amino acid 57. RT-PCR shows no difference in mRNA expression levels compared to wild-type, however, Western blot analysis indicates a significant reduction of protein in the bone marrow of homozygotes. TPI1 enzyme activity is 10%, 12%, 13% and 16% of wild-type levels in red blood cells, in the brain, in bone marrow-derived macrophages, and in unsorted bone marrow, respectively. (J:263104)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
SJL
Chemically induced
Single point
Recessive
1
1
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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