Phenotypes Associated with This Genotype

Genotype
MGI:5701349

• Allelic Composition: Lmod3^em1Eno/Lmod3^em1Eno
• Genetic Background: involves: C3H * C57BL/6

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

growth/size/body

decreased body size ( J:222174 )

• smaller body size that becomes more pronounced with age

cachexia ( J:222174 )

• mice gradually display a failure-to-thrive phenotype and become emaciated at 3 weeks of age; this is not due to suckling difficulties as mice have milk spots or due to difficulty breathing as diaphragms are unaffected

postnatal growth retardation ( J:222174 )

• growth rates are stunted

homeostasis/metabolism

increased skeletal muscle glycogen level ( J:222174 )

• accumulation of glycogen in the form of electron-dense granules in skeletal muscle

muscle

decreased cardiac muscle contractility ( J:222174 )

• cardiac function is minimally impaired, with a reduction in fractional shortening in 12 week old mice but normal heart rate

increased skeletal muscle glycogen level ( J:222174 )

• accumulation of glycogen in the form of electron-dense granules in skeletal muscle

abnormal sarcomere morphology ( J:222174 )

• disorganization of sarcomeres and disruption of thin-filament architecture in skeletal muscle, with pathology most severe in the soleus muscle

• soleus muscle shows extensive disruption of sarcomeres at 3 weeks of age, with remnants of sarcomeres consisting of irregular, disarrayed lamellae

abnormal Z line morphology ( J:222174 )

• Z lines are replaced by nemaline bodies appearing as distinct rod-like inclusions

decreased skeletal muscle fiber size ( J:222174 )

• reduction in skeletal myofiber size is seen as early as P7 and becomes more pronounced with age

centrally nucleated skeletal muscle fibers ( J:222174 )

• centralization of myofiber nuclei and pathological desmin accumulation are seen at 3 weeks of age

• however, markers of muscle degeneration and regeneration are not elevated

decreased skeletal muscle size ( J:222174 )

cardiovascular system

decreased cardiac muscle contractility ( J:222174 )

• cardiac function is minimally impaired, with a reduction in fractional shortening in 12 week old mice but normal heart rate

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 10		DOID:0110931	OMIM:616165	J:222174