Phenotypes Associated with This Genotype

Genotype
MGI:3850524

• Allelic Composition: Sgcb^tm1Oza/Sgcb^tm1Oza
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

muscle

myositis ( J:57590 )

• at 3 weeks, mononuclear cell infiltration within muscles occurs unlike in wild-type mice

abnormal skeletal muscle morphology ( J:57590 )

• mice exhibit muscular hypertrophy (tibialis anterior, gastrocnemius, and quadriceps femoris) compared with wild-type mice

increased gastrocnemius weight ( J:57590 )

• at 20 weeks

increased tibialis anterior weight ( J:57590 )

• 1.5 times

centrally nucleated skeletal muscle fibers ( J:57590 )

• at 2, 8, and 20 weeks

skeletal muscle fiber degeneration ( J:57590 )

• mice exhibit stripes of degenerating muscle fibers unlike wild-type mice that worsens with age

• muscle degeneration is observed at 2 weeks of age along with muscle regeneration

skeletal muscle fiber necrosis ( J:57590 )

• at 2 weeks in the soleus and tibialis anterior

• at 8 weeks in the quadricep

dystrophic muscle ( J:57590 )

• with extensive muscle degeneration and regeneration

growth/size/body

increased body size ( J:57590 )

• at 8 weeks, mice appear brawny with hypertrophic shoulders and limbs compared with wild-type mice

• at 20 weeks, female mice are hypertrophic and larger with increased body weight compared with wild-type mice

increased body weight ( J:57590 )

• at 20 weeks, female mice are hypertrophic and larger with increased body weight compared with wild-type mice

cardiovascular system

cardiac fibrosis ( J:57590 )

• at 56 weeks, many scattered patches of fibrosis are observed in the heart wall unlike in wild-type mice

immune system

myositis ( J:57590 )

• at 3 weeks, mononuclear cell infiltration within muscles occurs unlike in wild-type mice

limbs/digits/tail

increased gastrocnemius weight ( J:57590 )

• at 20 weeks

increased tibialis anterior weight ( J:57590 )

• 1.5 times

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2E		DOID:0110279	OMIM:604286	J:57590