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Allele : Tg(DUX4*)1Maar transgene insertion 1, Silvere van der Maarel

Primary Identifier  MGI:5555034 Allele Type  Transgenic
Attribute String  Humanized sequence, Inserted expressed sequence Gene  Tg(DUX4*)1Maar
Strain of Origin  (C57BL/6J x CBA/J)F1 Is Recombinase  false
Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion
  • synonyms:
  • D4Z4-2.5,
  • D4Z4-2.5
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

6 Publication categories

Trail: Allele