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Tbcepmn
Spontaneous Allele Detail
Nomenclature
Symbol: Tbcepmn
Name: tubulin-specific chaperone E; progressive motor neuronopathy
MGI ID: MGI:1856997
Synonyms: pmn, progressive motor neuropathy, TbceG
Gene: Tbce  Location: Chr13:14172534-14214223 bp, - strand  Genetic Position: Chr13, 5.29 cM
Mutation
origin
Strain of Origin:  NMRI/Pan
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe 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
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structures
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:  142 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:  36 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory