Phenotypes Associated with This Genotype

Genotype
MGI:5819051

• Allelic Composition: Lmod3^{Tn(pb-Act-RFP)1.1Zhu}/Lmod3^{Tn(pb-Act-RFP)1.1Zhu}
• Genetic Background: involves: C57BL/6J

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

behavior/neurological

decreased grip strength ( J:223382 )

• forelimb grip strength is less than 50% of that of controls

growth/size/body

decreased lean body mass ( J:223382 )

• lean mass, but not fat mass, is decreased

decreased body weight ( J:223382 )

• by 4 weeks of age, mice weigh 50% less than wild-type mice

postnatal growth retardation ( J:223382 )

• postnatal growth retardation as early as 1 week of age

muscle

abnormal sarcomere morphology ( J:223382 )

• disorganized sarcomeric structures in skeletal muscles

• 62.2% of tibialis anterior myofibers display a disorganized sarcomere structure

• length of the less organized thin filaments are shorter

abnormal Z line morphology ( J:223382 )

• Z-lines are widened and disorganized in many myofibers

abnormal skeletal muscle fiber morphology ( J:223382 )

• presence of nemaline bodies predominantly in atrophic skeletal muscles

• only some myofibers are smaller in size; these are type IIb-positive (fast) fibers

• mice have more type I fibers in type-IIb-predominant muscle

skeletal muscle fiber atrophy ( J:223382 )

• atrophic myofibers with internalized nuclei in tibialis anterior, gastrocnemius, and quadriceps muscles

• muscle atrophy specific to the fast myofibers

• however, soleus muscles appear normal

muscle weakness ( J:223382 )

• severe muscle weakness

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 10		DOID:0110931	OMIM:616165	J:223382