Phenotypes Associated with This Genotype

Genotype
MGI:3055667

• Allelic Composition: Dysf^prmd/Dysf^prmd
• Genetic Background: A/J

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

behavior/neurological

limb grasping ( J:92838 )

• hind-limb clasping develops after 8 months of age

• inability to spread legs when suspended by their tails after 8 months of age

abnormal physical strength ( J:92838 )

muscle

abnormal skeletal muscle morphology ( J:92838 )

• perivascular infiltrates and inflammation seen by 8 months of age

• eventually, active myopathy was seen in all skeletal muscles

abnormal skeletal muscle fiber morphology ( J:92838 )

• abnormalities primarily in proximal muscles at early ages

• hypertrophic fibers, fiber splitting and fat replacement also seen

centrally nucleated skeletal muscle fibers ( J:92838 )

skeletal muscle fiber degeneration ( J:92838 )

• fibers with scattered degenerating and regenerating fibers by 4-5 months of age

skeletal muscle fiber necrosis ( J:92838 )

• increased numbers of necrotic and regenerating fibers with time

skeletal muscle endomysial fibrosis ( J:92838 )

• endomysial fibrosis at later stages

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:92838
distal myopathy		DOID:11720	OMIM:PS160500	J:92838