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Phenotypes Associated with This Genotype
Genotype
MGI:5566910
Allelic
Composition
Tg(ACTA1*D286G)#Kjno/Tg(ACTA1*D286G)#Kjno
Genetic
Background
involves: C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 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
• 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
• 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
• mice have reduced body mass at 1 month of age but no longer at 4 months of age

muscle
• fast- and slow-twitch predominant muscles exhibit regions with complete loss of sarcomeric organization
• fast- and slow-twitch predominant muscles exhibit Z-band widening, and slipping and fragmentation
• 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
• 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
• 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


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory