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Allele : Tpi1<a-M3Neu> triosephosphate isomerase 1; mutation 3, Neuherberg

Primary Identifier  MGI:2183492 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 an A-to-C transversion at codon 248. This results in the alteration of the stop codon for a cysteine. The predicted protein contains 19 additional amino acids at the carboxy terminus. 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 3502,
  • Tpi<3Neu>,
  • Tpi<3Neu>,
  • TPI 3502
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

7 Publication categories