Phenotypes Associated with This Genotype

Genotype
MGI:3693326

• Allelic Composition: Tg(ACTA1-PABPN1*A17)1Drub/0
• Genetic Background: involves: FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

behavior/neurological

abnormal motor coordination/balance ( J:115642 )

• from ~9 months of age, mutants cannot lift their bodies, dragging the pelvis when walking

• late-stage locomotor defects are improved with DOX treatment at 9 and 10 months compared to placebo treatment

abnormal grip strength ( J:115642 )

• mutants display age-dependent decreases in grip strength compared to nontransgenic controls from 2-15 months of age

• in male mice treated with doxycycline (DOX) from 6 weeks of age, grip strength and vertical gripping is improved compared to nontreated transgenic mice

abnormal locomotor activation ( J:115642 )

• mutants show reluctance to walk from ~9 months

muscle

abnormal skeletal muscle fiber morphology ( J:115642 )

• proportion of myocyte nuclei with tubulo-filamentous ultrastructures and containing KCl-insoluble aggregates increases with age, compared to nontransgenic controls

• mutants have increased numbers of apoptotic myocyte nuclei compared to controls at 6-12 months

• musle has increased numbers vacuoules

• aggregate formation is decreased with DOX treatment and number of apoptotic nuclei is reduced

centrally nucleated skeletal muscle fibers ( J:115642 )

• musle has increased numbers of centrally located nuclei

muscle weakness ( J:115642 )

progressive muscle weakness ( J:115642 )

• mutant display weakness assessed by grip strength, wire maneuver and vertical gripping , leading to locomotor deficits

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
oculopharyngeal muscular dystrophy		DOID:11719	OMIM:164300	J:115642