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Phenotypes Associated with This Genotype
Genotype
MGI:6506379
Allelic
Composition
Dnm2tm2.1Ics/Dnm2+
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dnm2tm2.1Ics mutation (0 available); any Dnm2 mutation (100 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
N
• mice show no impaired performance on the hot plate, rotarod, or forepaw grip strength tests at 2 months and 1 year of age, and in the inverted hang motor test at 2 months of age
• minor gait alterations are seen at 2 months and 1 year of age
• mice travel less distance than controls in the open field at 2 months and 1 year of age

growth/size/body
• mice show a slight reduction in average body mass, with substantial variability at 2 months and 1 year of age

hematopoietic system
• the numbers of macrophages in between myofibers are elevated at 2 months and 1 year of age
• consistent increase in the number of macrophages in tibialis anterior muscle

immune system
N
• mice do not show changes in the abundance of CD4+ T cells, CD8+ T cells, B cells, neutrophils, inflammatory monocytes, macrophages or dendritic cells in the blood and do not develop signs of neutropenia
• mice challenged with infection by Listeria monocytogenes show no differences in immune cells in blood, spleen, bone marrow or peritoneal cavity compared to controls except for a very small change in B-cell numbers in spleens
• the numbers of macrophages in between myofibers are elevated at 2 months and 1 year of age
• consistent increase in the number of macrophages in tibialis anterior muscle

muscle
• an increase in extracellular matrix/fibrotic tissue is seen in soleus muscle at 2 months and 1 year of age, indicating myofiber damage
• marker analysis indicates an increase in fiber regeneration in soleus muscle in 2-month old mice
• soleus muscle shows a shift toward smaller-caliber fibers at 2 months and 1 year of age
• tibialis anterior muscle shows a shift in fiber diameter frequency distributions toward smaller-caliber fibers
• weight of soleus muscle is decreased in males at 2 months of age and in both males and females at 1 year of age
• tibialis anterior muscle weight is reduced, with some variability at 2 months of age and more uniformity at 1 year of age
• very small, but significant, increase of fiber type II and decrease of fiber type I is seen in soleus muscle at 2 months and 1 year of age
• the compound muscle action potential amplitude, which includes the muscle response to the motor axon stimulation, is reduced
• a slight, but significant, decrement of the muscle response to repetitive stimulation is seen at 3 and 10 Hz
• however, mice show no changes in compound sensory nerve conduction velocity and amplitude in the PNS compartment and no difference in motor nerve conduction velocity
• mice develop a mild but definitive and enduring primary myopathy which develops in the absence of neuropathy
• an increase in extracellular matrix/fibrotic tissue is seen in soleus muscle at 2 months and 1 year of age, indicating myofiber damage
• marker analysis indicates an increase in fiber regeneration in soleus muscle in 2-month old mice

nervous system
• g-ratio shows slightly lower average values in 1-year old distal tibial nerves, indicating marginally thicker myelin sheaths, especially surrounding small caliber axons
• however, myelin periodicity is not altered and no major signs of demyelination or remyelination are seen in distal tibial nerves indicating that mice do not develop typical features of a dysmyelinating/demyelinating neuropathy up to 1 year of age
• soleus muscles show a marginal decrease of fully innervated endplates at both 2 months and 1 year of age and a slight increase of partially denervated endplates in 1 year old mice
• however, no significant increase of fully denervated fibers is seen
• the compound muscle action potential amplitude, which includes the muscle response to the motor axon stimulation, is reduced

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
myopathy DOID:423 J:288372


Contributing Projects:
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
11/12/2024
MGI 6.24
The Jackson Laboratory