Phenotypes Associated with This Genotype

Genotype
MGI:3817494

• Allelic Composition: Tg(ACTA1-FRG1)highRotu/0
• Genetic Background: C57BL/6-Tg(ACTA1-FRG1)highRotu

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

muscle

abnormal skeletal muscle fiber morphology ( J:106896 )

• muscle fibers exhibit marked proliferation of collagen fibrils with histopathological signs of muscular dystrophy

centrally nucleated skeletal muscle fibers ( J:106896 )

• muscle fibers exhibit increased centrally localized nuclei

decreased skeletal muscle mass ( J:106896 )

• total muscle weight is 50% of wild-type

dystrophic muscle ( J:106896 )

• 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

impaired exercise endurance ( J:106896 )

• mice exhibit reduced tolerance to exercise compared to wild-type mice

growth/size/body

decreased body weight ( J:106896 )

• mice weigh 60% of wild-type

skeleton

kyphosis ( J:106896 )

• mice exhibit severe kyphosis

• however, mice exhibit normal spinal columns

behavior/neurological

behavior/neurological phenotype ( J:106896 )

N • despite decreased weight, mice exhibit normal caloric intake

impaired exercise endurance ( J:106896 )

• mice exhibit reduced tolerance to exercise compared to wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
facioscapulohumeral muscular dystrophy		DOID:11727		J:106896