Phenotypes Associated with This Genotype

Genotype
MGI:5556065

• Allelic Composition: Fkrp^tm1Scbr/Fkrp^tm1Scbr; Sox1^tm1(cre)Take/Sox1⁺; Tg(CAG-LARGE)126Fmu/0
• Genetic Background: involves: C57BL/6NCrlj * C57BL/10 * CBA/Ca * CBA/JNCrlj

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

mortality/aging

premature death ( J:207119 )

• poor health results in sacrifice at around 27 weeks of age

muscle

abnormal muscle morphology ( J:207119 )

• individual muscle fibers are occasionally surrounded by moderate to large amounts of compact, fibrous connective tissue and infiltrates of fat with some muscle fibers mineralized

centrally nucleated skeletal muscle fibers ( J:207119 )

skeletal muscle hypertrophy ( J:207119 )

• mice surviving to 30 weeks exhibit hypertrophy of muscle fibers

skeletal muscle fibrosis ( J:207119 )

calcified muscle ( J:207119 )

• presence of large calcium deposits in muscle

dystrophic muscle ( J:207119 )

• mice display more severe muscle phenotype than Fkrp^tm1Scbr Sox1^tm1(cre)Take mice

• variation in fiber size, centrally nucleated muscle fibers and increases in the number of split fibers at 12 weeks of age

• pronounced expansion of the interstitium with small to moderate amounts of variably mature fibroadipose tissue and substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells

abnormal muscle physiology ( J:207119 )

• muscle shows a reduction in resistance to eccentric contraction-induced injury (isometric force in the last contraction) relative to controls

myositis ( J:207119 )

• substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells

behavior/neurological

abnormal reflex ( J:207119 )

• partial collapse of the leg extensor reflex

immune system

myositis ( J:207119 )

• substantial inflammation in the interstitium and necrotic muscle fibers comprised of neutrophils, macrophages, and lesser numbers of lymphocytes and plasma cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2I		DOID:0110299	OMIM:607155	J:207119