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Tbptm1.1Xjl
Targeted Allele Detail
Summary
Symbol: Tbptm1.1Xjl
Name: TATA box binding protein; targeted mutation 1.1, Xiao-Jiang Li
MGI ID: MGI:5693900
Synonyms: SCA17 KI
Gene: Tbp  Location: Chr17:15720150-15737689 bp, + strand  Genetic Position: Chr17, 8.95 cM
Alliance: Tbptm1.1Xjl page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:213011
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S/SvEv
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsExon 2 was replaced with a floxed STOP, a neomycin resistance cassette and the corresponding human sequence for exon 2 with 105 CAG repeats. Cre-mediated recombination removed the floxed STOP, resulting in expression of the 105 CAG repeats. (J:213011)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Tbp Mutation:  10 strains or lines available
References
Original:  J:213011 Yang S, et al., Age-dependent decrease in chaperone activity impairs MANF expression, leading to Purkinje cell degeneration in inducible SCA17 mice. Neuron. 2014 Jan 22;81(2):349-65
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
11/12/2024
MGI 6.24
The Jackson Laboratory