Tg(ACTA1-PABPN1*A17)1Drub
Transgene Detail

Summary

• Symbol: Tg(ACTA1-PABPN1*A17)1Drub
• Name: transgene insertion 1, David Rubinsztein
• MGI ID: MGI:3693304
• Synonyms: A17-1, A17.1
• Transgene: Tg(ACTA1-PABPN1*A17)1Drub Location: unknown
• Alliance: Tg(ACTA1-PABPN1*A17)1Drub page

Transgene origin

• Strain of Origin: FVB/N

Transgene description

• Transgene Type: Transgenic (Inserted expressed sequence)
• Mutation: Insertion
• Tg(ACTA1-PABPN1*A17)1Drub expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  PABPN1 (8106)

  Pabpn1

  (MGI:1859158)

• Mutation details: The transgene contains the human skeletal actin promoter upstream of a mutant bovine cDNA with a series of CGC codons encoding a 17-amino acid polyalanine tract. (J:115642)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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tg1  Disease Model	Tg(ACTA1-PABPN1*A17)1Drub/0	involves: FVB/N

Phenotypes:

Affected Systems	tg1
show or hide all annotated terms
behavior/neurological	√
abnormal motor coordination/balance	√
abnormal grip strength	√
abnormal locomotor activation	√
muscle	√
abnormal skeletal muscle fiber morphology	√
centrally nucleated skeletal muscle fibers	√
muscle weakness	√
progressive muscle weakness	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	tg1
oculopharyngeal muscular dystrophy IDs oculopharyngeal muscular dystrophy       DOID:11719 ICD10CM:G71.09 MESH:D039141 NCI:C84942 OMIM:164300 UMLS_CUI:C0270952 Close	√

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: 2 strains available Cell Lines: 0 lines available

Notes

Of two lines descended from founders with this transgenic construct, line A7-1 has a more severe phenotype, correlated with higher transgene expression levels, than line A7-2.

References

• Original: J:115642 Davies JE, et al., Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat Med. 2005 Jun;11(6):672-7
• All: 11 reference(s)