Hprt1^{tm1(tetO-DUX4)Kyba}
Targeted Allele Detail

Summary

• Symbol: Hprt1^{tm1(tetO-DUX4)Kyba}
• Name: hypoxanthine phosphoribosyltransferase 1; targeted mutation 1, Michael Kyba
• MGI ID: MGI:5906933
• Synonyms: iDUX4pA
• Gene: Hprt1 Location: ChrX:52077014-52110536 bp, + strand Genetic Position: ChrX, 29.31 cM, cytoband A6
• Alliance: Hprt1^{tm1(tetO-DUX4)Kyba} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:243630
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Inducible, Inserted expressed sequence)
• Inducer: doxycycline/tetracycline
• Mutation: Insertion
• Mutation details: A p2lox targeting plasmid is designed to insert the human DUX4 ORF and 3' UTR followed by a poly A tail in front of a tetO promoter by exchanging it with the existing Cre recombinase ORF, using loxP and lox2272 sites. A non-functional neomycin resistance (neo) gene is placed downstream. This construct is inserted into a cassette exchange locus upstream of the Hprt gene using Inducible Cassette Exchange (ICE) recombination. (J:243630)

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 Hprt1 Mutation: 1274 strains or lines available

Notes

ES cell line = ZX1, which is a mutant A17 line. ZX1 ES cells are A17 ES cells engineered to carry an inducible cassette exchange allele at Hprt. A17 ES cells are mutant E14TG2A ES cells that carry an inserted rtTA sequence at the Rosa26 locus.

References

• Original: J:243630 Bosnakovski D, et al., Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model. Nat Commun. 2017 Sep 15;8(1):550
• All: 2 reference(s)