Phenotypes Associated with This Genotype

Genotype
MGI:5566910

• Allelic Composition: Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
• Genetic Background: involves: C57BL/6 * CBA

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

behavior/neurological

decreased exploration in new environment ( J:209273 )

• 8 month old mice spend less time traveling, cover a reduced distance and average speed is diminished during a 30 min interval in a novel environment

impaired coordination ( J:209273 )

• 8 month old mice do not perform as well as wild-type mice on a 5 min trial on an accelerating rotarod but perform normally during shorter 2 min trials

decreased locomotor activity ( J:209273 )

• one-month and four-month old mice are less active when housed with a voluntary running wheel, traveling a reduced distance over a 1 week period

• 8 month old mice spend less time traveling, cover a reduced distance and average speed is diminished during a 30 min interval in a novel environment

growth/size/body

decreased body weight ( J:209273 )

• mice have reduced body mass at 1 month of age but no longer at 4 months of age

muscle

abnormal sarcomere morphology ( J:209273 )

• fast- and slow-twitch predominant muscles exhibit regions with complete loss of sarcomeric organization

abnormal Z line morphology ( J:209273 )

• fast- and slow-twitch predominant muscles exhibit Z-band widening, and slipping and fragmentation

abnormal skeletal muscle morphology ( J:209273 )

• nemaline bodies are seen in skeletal muscle at 1 and 4 months of age

• skeletal muscle exhibits filamentous actin accumulation

• tubular aggregates are common in fast twitch muscles at 4 months of age

• fast twitch muscles from mice older than 4 months of age contain ringbinden fibers

• quadriceps, gastrocnemius, and soleus muscle show aggregates of alphaB-crystallin and desmin

• myofibrillar disorganization

impaired skeletal muscle contractility ( J:209273 )

• maximal specific force produced by EDL and soleus muscles is reduced in 1 month old mice

• skinned EDL muscle fibers are less sensitive to calcium

muscle weakness ( J:209273 )

• EDL and soleus muscles are weak; EDL muscle fibers produce less force at 3, 6, and 9 months of age, EDL and soleus muscles produce less maximal specific force, and have right shifted force-stimulation frequency relationships, with differences seen at 10, 20, 40, and 60 Hz of stimulation, both EDL and soleus muscles have lower twitch-specific force production, and the maximum rate of rise of the twitch responses is 50% slower in muscles

• the twitch responses are slower relative to wild-type muscles

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nemaline myopathy 3		DOID:0110927	OMIM:161800	J:209273