Summary | Transgene origin | Transgene description | Expression | Phenotypes | Find Mice (IMSR) | References

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

Strain of Origin:

(C57BL/6J x CBA/J)F1

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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)