Gt(ROSA)26Sor^tm1(DUX4)Sqh
Targeted Allele Detail

Summary

• Symbol: Gt(ROSA)26Sor^tm1(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)26Sor^tm1(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)26Sor^tm1(DUX4)Sqh expresses 1 gene
  Knock-in expresses:
  

  Organism	Expressed Gene	Note
  human	DUX4 (100288687)

• Gt(ROSA)26Sor^tm1(DUX4)Sqh expression driven by 1 gene
  Knock-in expression driven by:
  

  Organism	Driver Gene	Note
  mouse	Gt(ROSA)26Sor (MGI:104735)

• Mutation details: The 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)

Disease models

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: 993 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)