Tbce^pmn
Spontaneous Allele Detail

Summary

• Symbol: Tbce^pmn
• Name: tubulin-specific chaperone E; progressive motor neuronopathy
• MGI ID: MGI:1856997
• Synonyms: pmn, progressive motor neuropathy, Tbce^G
• Gene: Tbce Location: Chr13:14172534-14214223 bp, - strand Genetic Position: Chr13, 5.29 cM
• Alliance: Tbce^pmn page

Mutation origin

• Strain of Origin: NMRI/Pan

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: 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. (J:79895, J:80606)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Tbce Mutation: 152 strains or lines available

Notes

This mutation was identified in 1988 at the Panum Institute in Copenhagen.

References

• Original: J:30914 Schmalbruch H, et al., A new mouse mutant with progressive motor neuronopathy. J Neuropathol Exp Neurol. 1991 May;50(3):192-204
• All: 37 reference(s)