Mouse Genome Informatics
tg
    Tg(ACTA1-Frg1)medRotu/0
C57BL/6-Tg(ACTA1-Frg1)medRotu
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
muscle
• muscle fibers exhibit marked proliferation of collagen fibrils with histopathological signs of muscular dystrophy
• muscle fibers exhibit increased centrally localized nuclei
• total muscle weight is 75% of wild-type
• the severity of dystrophic muscles corresponds to expression levels of the transgene and results in reduced muscle mass
• however, mitochondrial activity and sarcolemmal integrity within muscle fibers are normal

homeostasis/metabolism
• mice exhibit reduced tolerance to exercise compared to wild-type mice

growth/size/body
• mice weigh 80% of wild-type

skeleton
• mice exhibit mild kyphosis
• however, mice exhibit normal spinal columns

behavior/neurological
N
• despite decreased weight, mice exhibit normal caloric intake (J:106896)
• mice exhibit reduced tolerance to exercise compared to wild-type mice

Mouse Models of Human Disease
OMIM IDRef(s)
Facioscapulohumeral Muscular Dystrophy 1; FSHD1 158900 J:106896