Tg(DUX4*)1Maar
Transgene Detail

Summary

• Symbol: Tg(DUX4*)1Maar
• Name: transgene insertion 1, Silvere van der Maarel
• MGI ID: MGI:5555034
• Synonyms: D4Z4-2.5
• Transgene: Tg(DUX4*)1Maar Location: unknown Genetic Position: Chr17, Syntenic
• Alliance: Tg(DUX4*)1Maar page

Transgene origin

• Strain of Origin: (C57BL/6J x CBA/J)F1

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Mutation details: This transgene carries a 13.5 kb EcoRI fragment derived from a lambda-42 phage clone encompassing the partially deleted D4Z4 locus of a patient with facioscapulohumeral dystrophy. This allele contains the DUX4 pA signal, but lacks the more downstream exons 6 and 7 and contains 2.5 copies of the D4Z4 unit and flanking sequences. 4 copies of the fragment were integrated on chromosome 17. DUX4 mRNA was detected in germline tissues and variable expression is seen in analyzed somatic tissues including skeletal muscle and in the cerebellum. (J:195481)

Expression

In Structures Affected by this Mutation:

2 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

References

• Original: J:195481 Krom YD, et al., Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD. PLoS Genet. 2013 Apr;9(4):e1003415
• All: 4 reference(s)