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Allele : Tpi1<rbc19> triosephosphate isomerase 1; red blood cell mutant 19

Primary Identifier  MGI:6188634 Allele Type  Chemically induced (ENU)
Attribute String  Hypomorph Gene  Tpi1
Inheritance Mode  Recessive Strain of Origin  SJL
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Single point mutation
  • synonyms:
  • RBC19,
  • RBC19,
  • Tpi1<F57S>,
  • Tpi1<F57S>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

3 Publication categories

Trail: Allele