Allele/Variant

Tpi1a-M2Neu

Species
Mus musculus
Symbol
Tpi1a-M2Neu
Category
allele
Allele of gene
Tpi1
Transgenic Constructs
None
Synonyms
  • TPI 2312
  • Tpi2Neu
Description
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. This mutation is identical to Tpim-1Neu, but arose independently. TPI1 activity in heterozygotes is 50% that of wild-type in blood; and also reduced in liver, lung, spleen, kidney, brain, heart and muscle.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations