Phenotypes Associated with This Genotype

Genotype
MGI:6690813

• Allelic Composition: Dysf^tm1.1Mdcb/Dysf^tm1.1Mdcb
• Genetic Background: B6.129P2(Cg)-Dysf^tm1.1Mdcb

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

muscle

skeletal muscle fiber necrosis ( J:302056 )

• necrotic muscle fibers are first seen at 14 weeks of age

skeletal muscle fibrosis ( J:302056 )

• muscle fibrosis is first seen at 14 weeks of age and at 60 months of age, more muscle fibers are replaced by fatty fibrosis

dystrophic muscle ( J:302056 )

• signs of muscular dystrophy such as necrotic and regenerating muscle fibers, fiber splitting, and fibrosis, first occur from 14 weeks of age onward and progress significantly with age

abnormal muscle physiology ( J:302056 )

• flexor digitorum brevis muscle fibers exhibit delayed membrane repair in a laser-wounding assay

homeostasis/metabolism

amyloidosis ( J:302056 )

• muscle shows amyloid deposits at vessel walls and at the sarcolemma at older age

delayed wound healing ( J:302056 )

• flexor digitorum brevis muscle fibers exhibit delayed membrane repair in a laser-wounding assay

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2B		DOID:0110276	OMIM:253601	J:302056