Phenotypes Associated with This Genotype

Genotype
MGI:7444383

• Allelic Composition: Dnajb4^em1Sngi/Dnajb4⁺
• Genetic Background: involves: C57BL/6J

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

muscle

abnormal skeletal muscle morphology ( J:333950 )

• muscles accumulate aggregated and insoluble myofibrillar proteins at 28 months of age

• Z-disc components and HSP70 accumulate in muscle at 28 months of age

abnormal skeletal muscle fiber morphology ( J:333950 )

• 28-month-old soleus shows variation in fiber size, increase in fibers with internal nuclei, and cytoplasmic inclusions

• soleus of 28-month-old mice shows an increase in fibers with p62+ inclusions

decreased skeletal muscle fiber size ( J:333950 )

• soleus muscle fiber size is decreased at 11 months of age

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

• soleus muscle shows greater variation in fiber size at 28 months of age

skeletal muscle atrophy ( J:333950 )

• mice develop myofiber atrophy

skeletal muscle fibrosis ( J:333950 )

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

impaired skeletal muscle contractility ( J:333950 )

• absolute isometric force and cross-sectional area-normalized isometric force of the soleus muscle are lower in 11- and 28-month old mice

• twitch-tetanic ratio and valley-to-peak slope of isometric force are lower in soleus suggesting muscles slowly contract on electric stimuli

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