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Phenotypes Associated with This Genotype
Genotype
MGI:5314815
Allelic
Composition
Chrnetm2Vwi/Chrnetm2Vwi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chrnetm2Vwi mutation (0 available); any Chrne mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• 13% reduction in forelimb grip strength
• develop a whistling noise during exercise or when excited

respiratory system
• develop a whistling noise during exercise or when excited possibly due to respiratory muscle deficiency

nervous system
• postsynaptic membrane thinner due to loss of acetylcholine receptors
• decreased receptor density in neuromuscular junctions of Soleus
• fragmented presynaptic and postsynaptic organization in Soleus
• prolonged tau values for miniature end plate currents in triangularis sterni muscle
• prolonged evoked end plate potentials with progressive summation
• increased potentials and prolonged decay times in Extensor digitorum longus
• Soleus decay times prolonged

muscle
• simplified postsynaptic gutter in soleus muscle and loss of junctional folds
• accumulation of vesicles in postsynaptic sarcoplasm of Soleus muscle fibers
• degenerating nuclei in Soleus muscle fibers, apoptotic nuclei
• atrophic Soleus muscle fibers
• accumulation of empty vesicles in Extensor digitorum longus fibers
• tetanic muscle contractions develop less force than in controls
• tetanic contractions fade at stimulus frequencies of 150Hz

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
congenital myasthenic syndrome 4A DOID:0110678 OMIM:605809
J:182046


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
02/23/2021
MGI 6.16
The Jackson Laboratory