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Ttbk2tm1Dral
Targeted Allele Detail
Summary
Symbol: Ttbk2tm1Dral
Name: tau tubulin kinase 2; targeted mutation 1, Dario R Alessi
MGI ID: MGI:5056320
Synonyms: TTBK2fmly1, Ttbk2sca11
Gene: Ttbk2  Location: Chr2:120563297-120681085 bp, - strand  Genetic Position: Chr2, 60.37 cM, cytoband F1
Alliance: Ttbk2tm1Dral page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:173629
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Dominant negative)
Mutation:    Insertion
 
Mutation detailsAn adenosine was inserted in exon 13. This mutation is observed in spinocerebellar ataxia type 11 family 1. (J:173629)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Ttbk2 Mutation:  64 strains or lines available
References
Original:  J:173629 Bouskila M, et al., TTBK2 kinase substrate specificity and the impact of spinocerebellar-ataxia-causing mutations on expression, activity, localization and development. Biochem J. 2011 Jul 1;437(1):157-67
All:  2 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
10/22/2024
MGI 6.24
The Jackson Laboratory