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Gt(ROSA)26Sortm1(DUX4)Sqh
Targeted Allele Detail
Summary
Symbol: Gt(ROSA)26Sortm1(DUX4)Sqh
Name: gene trap ROSA 26, Philippe Soriano; targeted mutation 1, Scott Harper
MGI ID: MGI:6273758
Synonyms: ROSA26-DUX4
Gene: Gt(ROSA)26Sor  Location: Chr6:113044389-113054205 bp, - strand  Genetic Position: Chr6, 52.73 cM
Alliance: Gt(ROSA)26Sortm1(DUX4)Sqh page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:268959
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Conditional ready, Epitope tag, Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Gt(ROSA)26Sortm1(DUX4)Sqh expresses 1 gene
 
Gt(ROSA)26Sortm1(DUX4)Sqh expression driven by 1 gene
 
Mutation detailsThe targeting construct contains from 5' to 3': a loxP-flanked transcriptional STOP cassette (neomycin cassette in reverse orientation) driven by the PGK promoter followed by human DUX4 exon 1 fused to a V5 epitope sequence, exon 2, exon 3, and a BGH polyA. Exon 3 derives from the chrom 4q pLAM region and contains the non-canonical 5'-ATTAAA-3' poly A signal utilized by the last DUX4 copy in facioscapulohumeral muscular dystrophy (FSHD) patients. The vector is inserted in the first intron of Gt(ROSA)26Sor locus. (J:268959)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Gt(ROSA)26Sor Mutation:  992 strains or lines available
References
Original:  J:268959 Giesige CR, et al., AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15;3(22)
All:  3 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
10/29/2024
MGI 6.24
The Jackson Laboratory