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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Tg(GAL4-PABPN1*A16)#Cath
transgene insertion, Charles A Thornton
MGI:5314745
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cx1
Tg(CAG-GLVP)#Cath/0
Tg(GAL4-PABPN1*A16)#Cath/0
involves: C57BL/6 * FVB MGI:5314754


Genotype
MGI:5314754
cx1
Allelic
Composition
Tg(CAG-GLVP)#Cath/0
Tg(GAL4-PABPN1*A16)#Cath/0
Genetic
Background
involves: C57BL/6 * FVB
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 13% of mifepristone (MFP) treated mice to induce PABPN1 expression die suddenly around 10-12 weeks after the first MFP pellets are implanted
• more than 70% of mutants induced with MFP die or were euthanized within 10 months of induction and none survive beyond 12 months

behavior/neurological
• mutants induced with MFP exhibit reduced grooming behavior around 10-12 weeks after the first MFP pellets are implanted
• mutants induced with MFP exhibit impaired rotarod performance, falling off the rotarod much quicker than controls
• when MFP is withdrawn after 4 months of treatment, mice begin to show signs of behavioral improvement within 3-4 weeks of MFP withdrawal, with improved cage behavior and rotarod performance
• mutants induced with MFP exhibit reduced cage activity around 10-12 weeks after the first MFP pellets are implanted
• when MFP is withdrawn after 4 months of treatment, mice begin to show signs of behavioral improvement within 3-4 weeks of MFP withdrawal, with improved cage behavior

cardiovascular system
• MFP induced mice that die suddenly after 10-12 weeks of MFP treatment show dilated cardiomyopathy
• mutants induced with MFP develop dilated cardiomyopathy with disarray of cardiomyocytes, cellular infiltrates, and increased connective tissue; cardiac enlargement is seen as early as 3 months after induction

muscle
• MFP induced mice that die suddenly after 10-12 weeks of MFP treatment show dilated cardiomyopathy
• mutants induced with MFP develop dilated cardiomyopathy with disarray of cardiomyocytes, cellular infiltrates, and increased connective tissue; cardiac enlargement is seen as early as 3 months after induction
• MFP induced mutants exhibit muscles with internal nuclei, variability of muscle fiber size, increased connective tissue, rimmed vacuoles in cytoplasm of some muscle fibers and atrophy of muscle fibers after 6 months of induction
• MFP induced mutants show abnormally enlarged myonuclei containing clear zones within the nucleoplasm and large nuclear collections of filamentous structures that do not form well defined palisades or tangles
• in MFP induced mutants after 6 months of induction
• in MFP induced mutants after 6 months of induction
• mice implanted with subcutaneous timed-release of MFP pellets to induce PABPN1 expression, develop progressive non-necrotic myopathy associated with rimmed vacuoles and myonuclear filamentous inclusions
• MFP induced mutants develop muscle disease that is widespread with the involvement of pharyngeal, diaphragm, paraspinal, and limb muscles

skeleton
• mutants induced with MFP develop thoracic spine kyphosis

Mouse Models of Human Disease
OMIM ID Ref(s)
Oculopharyngeal Muscular Dystrophy; OPMD 164300 J:178541





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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory