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Allele : Tpi1<a-M1Neu> triosephosphate isomerase 1; mutation 1, Neuherberg

Primary Identifier  MGI:2183489 Allele Type  Chemically induced (ENU)
Gene  Tpi1 Inheritance Mode  Semidominant
Strain of Origin  (101/El x C3H/El)F1 Is Recombinase  false
Is Wild Type  false
molecularNote  The mutation is a T-to-A transversion at codon 192 in exon 6. This is predicted to alter a leucine to a glycine in the H6 alpha-helix on the outer surface of the protein. TPI1 activity in heterozygotes is 50% that of wild-type in blood; and also reduced in liver, lung, spleen, kidney, brain, heart and muscle.
  • mutations:
  • Single point mutation
  • synonyms:
  • TPI 2161,
  • TPI 2161,
  • Tpi<1Neu>,
  • Tpi<1Neu>
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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

7 Publication categories

Trail: Allele