Tbce<pmn> Spontaneous Allele Detail MGI Mouse (MGI:1856997)

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

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Expression

In Structures Affected by this Mutation:

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)

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