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Allele : Tbce<pmn> tubulin-specific chaperone E; progressive motor neuronopathy

Primary Identifier  MGI:1856997 Allele Type  Spontaneous
Gene  Tbce Inheritance Mode  Recessive
Strain of Origin  NMRI/Pan Is Recombinase  false
Is Wild Type  false
description  This mutation was identified in 1988 at the Panum Institute in Copenhagen.
molecularNote  The mutation has been identified as T-to-G transversion, resulting in a p.Trp524Gly amino acid substitution in the encoded protein. Northern analysis detected no difference in transcript levels between mutant and wild-type mice. That the mutation was due a defect in Tbce was demonstrated through complementation with a line expressing a Tbce transgene.
  • mutations:
  • Single point mutation
  • synonyms:
  • pmn,
  • progressive motor neuropathy,
  • pmn,
  • Tbce<G>,
  • Tbce<G>,
  • progressive motor neuropathy
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

7 Carried By

Trail: Allele

0 Driven By

38 Publication categories

Trail: Allele