Phenotypes Associated with This Genotype

Genotype
MGI:7444385

• Allelic Composition: Dnajb4^em2Sngi/Dnajb4^em2Sngi
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

decreased grip strength ( J:333950 )

• mice exhibit grip weakness at 5 months of age

muscle

abnormal sarcomere morphology ( J:333950 )

• soleus muscle of 28-week-old mice shows degenerated sarcomeres with sequestered filaments next to relatively spared Z-discs

abnormal skeletal muscle fiber morphology ( J:333950 )

• soleus muscles from 28-month-old mice show variation in fiber size, increased fibers with internal nuclei and cytoplasmic inclusions, and proliferation of interstitial connective tissues and increased p62+ fibers

• soleus muscle of 28-week-old mice show low-density lesions showing disrupted myofibrils surrounded by structures with electron-dense material similar to Z-disc, degenerated sarcomeres with sequestered filaments next to relatively spared Z-discs in the vicinity of lesions, and wooly sand-like material

• diaphragm shows variation in fiber size, cytoplasmic inclusions, and widespread lesions with disorganized myofibrils and wooly sand-like material

increased variability of skeletal muscle fiber size ( J:333950 )

• soleus muscles from 28-month-old mice show variation in fiber size

abnormal diaphragm morphology ( J:333950 )

• 13-month-old diaphragm shows variation in fiber size and cytoplasmic inclusions; fibers with cytoplasmic inclusions are predominantly type I fibers

• diaphragm shows widespread lesions showing disorganized myofibrils and wooly sand-like material

decreased skeletal muscle mass ( J:333950 )

• 13-month-old mice exhibit decreased muscle mass

skeletal muscle fibrosis ( J:333950 )

• muscle fibrosis is seen in soleus of 28-month-old mice

impaired skeletal muscle contractility ( J:333950 )

• 13-month-old mice exhibit decreased peak isometric fore and maximum tetanic force of tibialis anterior and gastrocnemius muscle

• soleus muscles ex vivo show lower peak isometric force and maximum tetanic force with or without cross-sectional area normalization at 28 months of age

muscle weakness ( J:333950 )

• mice develop muscle weakness

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
distal myopathy		DOID:11720	OMIM:PS160500	J:333950