Phenotypes Associated with This Genotype

Genotype
MGI:5553123

• Allelic Composition: Neb^tm1.1Hgra/Neb^tm1.1Hgra
• Genetic Background: involves: C57BL/6 * C57BL/6J * SJL

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

mortality/aging

postnatal lethality, complete penetrance ( J:206854 )

• mice typically do not survive beyond the first week

muscle

abnormal sarcomere morphology ( J:206854 )

• shorter thin filament lengths

abnormal Z line morphology ( J:206854 )

• nemaline bodies are located in the Z-band

abnormal skeletal muscle fiber morphology ( J:206854 )

• reduced calcium sensitivity of force

decreased skeletal muscle fiber size ( J:206854 )

• hypotrophic fibers

abnormal muscle physiology ( J:206854 )

• altered crossbridge cycling kinetics

muscle weakness ( J:206854 )

• severe due to changes in myofibrillar function

growth/size/body

postnatal growth retardation ( J:206854 )

• severe

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 2		DOID:0110928	OMIM:256030	J:206854